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Aphakia

Aphakia is a medical condition characterized by the absence of the eye's natural crystalline lens, which is essential for focusing light onto the retina to produce clear vision. It is most commonly acquired following cataract surgery, affecting millions worldwide, while congenital aphakia is extremely rare.^[1]^[2]^[3]^[4] This absence results in significant hyperopia (farsightedness), blurred vision at all distances, and loss of accommodation, the eye's ability to adjust focus for near or far objects.^[2]^[3] Aphakia may affect one eye (unilateral) or both eyes (bilateral) and can occur congenitally or be acquired later in life.^[3]^[4] The most common cause of aphakia is surgical removal of the lens during cataract surgery, where the clouded lens is extracted to restore vision.^[3]^[4] Other causes include congenital anomalies, such as primary aphakia where the lens fails to develop in utero, or secondary forms due to lens absorption or malformation in utero; traumatic injuries that damage or dislodge the lens; or rare complications from ulcers or perforating wounds.^[2]^[3]^[4] In infants and children, untreated aphakia poses a high risk of amblyopia (lazy eye), a potentially permanent reduction in vision if not addressed early, as the developing visual system requires proper input.^[2]^[3] Symptoms of aphakia typically include severely blurred or hazy vision, faded or washed-out color perception, difficulty with depth perception, and challenges focusing on moving objects.^[2]^[3]^[4] Additional signs may involve iridodonesis, a noticeable trembling or jiggling of the iris due to the lack of lens support, and monocular diplopia (double vision in one eye) in unilateral cases.^[2]^[3] Diagnosis is confirmed through a comprehensive eye examination by an ophthalmologist, often using a slit-lamp biomicroscopy to visualize the anterior segment of the eye; in congenital cases, it may be detected prenatally via ultrasound.^[3]^[4] Treatment for aphakia focuses on optical correction to restore functional vision and prevent complications.^[2]^[3] Primary options include implantation of an artificial intraocular lens (IOL) during or after surgery, though this is often delayed in young children until the eye grows sufficiently, typically around age 2.^[2]^[3]^[4] For infants and those not suitable for IOLs, high-powered contact lenses or thick aphakic glasses are used, with contacts preferred for unilateral cases to avoid image size disparities that could worsen amblyopia.^[2]^[3] Potential complications of aphakia include glaucoma, retinal detachment, and corneal edema, necessitating lifelong monitoring by eye care specialists.^[3] With appropriate intervention, most individuals achieve good visual outcomes, particularly when treated promptly in pediatric cases.^[2]^[4]

Overview

Definition

Aphakia is defined as the absence of the crystalline lens within the eye, leading to a significant loss of the eye's natural refractive power and ability to focus light onto the retina.^[5] This condition disrupts normal vision by eliminating the lens's role in accommodating for near and far distances.^[6] Aphakia must be distinguished from pseudophakia, which occurs when an artificial intraocular lens has been implanted, typically after cataract extraction, thereby restoring some focusing capability.^[7] It is also unrelated to anophthalmia, a severe congenital malformation involving the complete absence of the eye itself within the orbit.^[8] Aphakia can be classified as unilateral, affecting a single eye, or bilateral, involving both eyes.^[9] Regarding its origin, it may present as primary congenital aphakia, a rare developmental anomaly where the lens fails to form due to disrupted induction of the lens placode during embryogenesis.^[10] Alternatively, it can manifest as secondary aphakia, either congenitally from in utero resorption of a formed lens or acquired later through other means.^[6] It is often encountered following cataract surgery without intraocular lens implantation.^[5]

Epidemiology

Aphakia, the absence of the crystalline lens, is closely associated with cataract prevalence, as surgical removal of cataracts is a primary cause leading to aphakia or pseudophakia.^[11] As of 2018, the prevalence of pseudophakia in the United States was 6.5% in the total population and approximately 20% among adults over 50 years, reflecting the high rate of cataract surgeries; aphakia remains rare due to routine intraocular lens implantation.^[12] Globally, uncorrected aphakia has significantly declined since 1990 as a cause of vision impairment, primarily due to widespread cataract surgery with intraocular lens implantation.^[13] Congenital primary aphakia is an extremely rare condition with unknown prevalence; only isolated cases have been reported in the medical literature, often associated with genetic mutations such as in FOXE3, and it follows an autosomal recessive inheritance pattern.^[14] In contrast, acquired aphakia shows higher incidence in developing regions, where trauma accounts for 12-46% of pediatric cataracts leading to lens removal, and delayed cataract surgeries contribute to elevated rates of unoperated or post-surgical aphakia, comprising up to 9.2% of childhood blindness in areas like Ethiopia.^[15]^[16] Among pediatric cases, aphakia is frequently unilateral, particularly following traumatic events, which predominate in such settings.^[17]

Etiology

Acquired Causes

Acquired aphakia refers to the absence of the crystalline lens resulting from events occurring after birth, primarily through iatrogenic or traumatic mechanisms. The most common cause is surgical removal of the lens during cataract extraction, which accounts for the majority of cases in adults. This procedure, historically performed via intracapsular cataract extraction (ICCE), where the entire lens including the capsule is removed, or extracapsular cataract extraction (ECCE), preserving the posterior capsule, often leaves the eye aphakic if no intraocular lens (IOL) is implanted.^[5] In modern practice, phacoemulsification—a technique introduced in 1967—has become the standard for cataract surgery, emulsifying and aspirating the lens nucleus through a small incision, but aphakia can still result from intraoperative complications, failure to place an IOL, or subsequent IOL dislocation.^[18] Trauma represents another significant acquired cause, particularly penetrating injuries that directly expel the lens from the eye or blunt force trauma that dislocates or damages it, leading to absorption over time. Penetrating wounds, such as those from sharp objects or accidents, account for a notable proportion of traumatic aphakia, often accompanied by other ocular damage like corneal lacerations or vitreous loss. In cases of blunt trauma, the lens may undergo spontaneous resorption due to capsular rupture and exposure of lens material to aqueous humor, resulting in complete dissolution and aphakia without surgical intervention; this process can take months to years and is more common in younger patients with resilient lens capsules.^[2]^[19] Less frequently, aphakia arises as a complication of other ocular surgeries, such as vitreoretinal procedures, where inadvertent lens damage or removal may occur during vitrectomy for conditions like retinal detachment, especially in aphakic or pseudophakic eyes. Infections or severe inflammatory conditions, including endophthalmitis or lens-induced uveitis, can rarely lead to lens dissolution through enzymatic breakdown or phagocytic absorption of lens proteins, though this typically requires subsequent surgical intervention to achieve full aphakia. The incidence of acquired aphakia rose markedly after the 1960s, coinciding with the global expansion of cataract surgery following advancements like phacoemulsification and IOL implantation, transforming it from a rare postoperative state to a more prevalent iatrogenic outcome.^[20]^[21] Unlike congenital forms, which stem from developmental anomalies, acquired aphakia is invariably linked to postnatal interventions or injuries.^[18]

Congenital Causes

Congenital aphakia refers to the absence of the crystalline lens at birth, arising from developmental anomalies during early embryogenesis. This condition is distinct from acquired forms, as it manifests immediately at birth, is frequently bilateral, and carries an elevated risk of associated ocular malformations such as microphthalmia.^[22]^[23] Primary congenital aphakia results from a complete failure of lens placode formation, typically occurring around the 4th to 5th week of gestation due to early developmental arrest. This rare autosomal recessive disorder is primarily linked to pathogenic variants in genes critical for lens induction, such as homozygous nonsense mutations in FOXE3, which disrupt transcription factor function essential for ocular development. Similarly, mutations in MAF, another transcription factor gene, have been implicated in severe lens defects leading to aphakia, often alongside other anterior segment anomalies. Other genes, such as GJA8, have also been implicated in recent reports.^[22]^[23]^[24]^[25] Secondary congenital aphakia occurs when an initially formed lens is subsequently absorbed or disrupted prenatally. Common etiologies include persistent fetal vasculature (PFV), a malformation where embryonic hyaloid vessels fail to regress, leading to mechanical distortion and resorption of lens tissue. Maternal rubella infection during early pregnancy can also induce this form through viral-induced apoptosis of primary lens fibers, as the rubella virus persists in ocular tissues and triggers degenerative changes.^[26]^[6] Congenital aphakia is often associated with broader syndromic features, including Peters anomaly and other anterior segment dysgeneses, where defective mesenchymal or neural crest-derived structures contribute to corneal opacities, iris defects, and shallow anterior chambers. These associations underscore the condition's role within a spectrum of developmental ocular disorders; the prevalence of congenital aphakia is unknown but considered extremely rare, with only isolated cases reported in the medical literature.^[27]^[14]

Pathophysiology

Refractive and Optical Effects

Aphakia results in severe hyperopia due to the absence of the crystalline lens, which normally contributes approximately 20 to 25 diopters of refractive power in adults (decreasing with age) and 40 to 50 diopters or more in newborns (decreasing with growth in children).^[5]^[28] This loss shifts the focal point behind the retina, causing significant farsightedness typically ranging from +10 to +15 diopters in adults and +20 to +30 diopters or more in young children, depending on age and axial length, and severely blurring distance vision without correction.^[5] The condition is exacerbated in pediatric cases, where the higher lens power at birth amplifies the refractive error. The removal or absence of the lens also eliminates the eye's accommodative ability, preventing changes in focal length for near vision.^[5] This presbyopia-like effect impacts all ages but is particularly detrimental in children and young adults, who rely on accommodation for tasks like reading and learning, potentially leading to amblyopia if uncorrected.^[5] Additionally, the anterior chamber may deepen slightly due to the lack of lens support, further altering optical dynamics.^[5] Without the lens's filtering function, unblocked short-wavelength light reaches the retina, often causing cyanopsia—a bluish tint to vision—due to increased sensitivity to blue and ultraviolet spectra.^[29] Erythropsia, a reddish hue, occurs less commonly and may relate to specific postoperative factors.^[29] Post-traumatic or surgical aphakia can induce astigmatism through irregular corneal healing or wound distortion, distorting light rays and compounding refractive errors.^[30]

Anatomical and Physiological Changes

The absence of the crystalline lens in aphakia leads to significant anatomical alterations in the anterior segment of the eye, primarily characterized by a deepened anterior chamber due to the elimination of the lens volume that previously occupied space posterior to the iris.^[31] This deepening occurs as the posterior chamber effectively merges with the vitreous cavity, allowing for increased aqueous humor flow and structural reconfiguration, often resulting in forward displacement of the iris as it loses the stabilizing support of the lens-iris diaphragm.^[32] In clinical observations, anterior chamber depths in aphakic eyes are typically increased by 0.5 to 1.5 mm compared to normal, contributing to the overall altered geometry of the eye.^[32] The loss of lens support also induces dynamic physiological changes, most prominently iridodonesis, or tremulous movement of the iris, which becomes evident during slit-lamp examination as the iris exhibits exaggerated mobility with eye movements or blinking due to the absence of zonular and capsular anchorage.^[31]^[32] If partial lens remnants or capsular fragments remain following traumatic or surgical lens removal, phacodonesis—a trembling of these residual structures—may occur, further highlighting the instability of the anterior segment.^[33] These changes in iris dynamics can lead to an eccentric or irregular pupil appearance, with reduced stability and potential for altered responses to light or pharmacological agents, as the iris lacks its normal posterior backing.^[31] Additionally, aphakia predisposes the eye to vitreous prolapse into the anterior chamber, particularly in cases arising from trauma or incomplete surgical vitrectomy, where the vitreous face advances forward through the pupil without the lens barrier, potentially causing mechanical irritation or secondary complications like inflammation.^[31]^[34] Zonular instability often persists or is exacerbated if aphakia results from underlying zonulopathy, such as in ectopia lentis or degenerative conditions, leaving the ciliary body attachments weakened and susceptible to further decompensation during ocular movements or pressure changes.^[31]^[35] These anatomical and physiological shifts collectively disrupt the normal biomechanical equilibrium of the eye, though they may result in hyperopia as a refractive consequence.^[5]

Clinical Features

Signs

Aphakia is characterized by several distinctive objective findings on clinical examination, primarily detectable via slit-lamp biomicroscopy and direct ophthalmoscopy. One of the hallmark signs is a deep anterior chamber, resulting from the absence of the crystalline lens, which normally occupies space between the iris and posterior cornea; this depth increase is typically evident as an exaggerated anterior chamber on sagittal slit-lamp illumination.^[36]^[37] Iridodonesis, or tremulous movement of the iris, is another key observable sign, occurring due to the loss of lens support that stabilizes the iris during eye movements or accommodation attempts; this wobbling is best appreciated under slit-lamp examination with gentle pressure on the globe or during saccades.^[38]^[39] Accompanying this, the absence of a red reflex is noted on ophthalmoscopic or direct reflex testing, as the lack of the lens prevents proper focusing and reflection of light from the retina, resulting in a dark or absent pupillary glow. In congenital cases of aphakia, additional anatomical anomalies may be present, such as microphthalmia, characterized by a smaller-than-normal eye globe visible on external inspection or imaging, or megalocornea, where the corneal diameter exceeds 13 mm, observed during biomicroscopy and associated with anterior segment dysgenesis.^[9]^[40] Following surgical induction of aphakia, such as after cataract extraction, visible surgical scars at the limbal or scleral incision site are apparent on slit-lamp examination, often appearing as linear opacities or irregularities in the corneal or conjunctival surface. Additionally, in cases complicated by vitreous loss during surgery, vitreous strands may protrude into the anterior chamber, presenting as fine, mobile fibrillar structures visible on biomicroscopy and potentially contributing to associated vision loss.^[41]

Symptoms

The primary symptom of aphakia is blurred or distorted vision, resulting from the absence of the crystalline lens, which normally provides about two-thirds of the eye's refractive power and leads to severe uncorrected hyperopia.^[2]^[5] This refractive error particularly affects near vision, as patients lose the ability to accommodate, making it difficult to focus on close objects without corrective measures.^[5] Additionally, colors may appear faded due to altered light transmission through the eye without the lens's filtering properties.^[5]^[3] In cases of unilateral aphakia, patients often report monocular diplopia or ghosting, where images from the aphakic eye appear overlaid or duplicated due to the mismatch in refractive power between the two eyes.^[42] This can cause visual confusion during binocular viewing, exacerbating the distortion.^[43] Photophobia and glare sensitivity are also common, as the natural lens absorbs ultraviolet and short-wavelength blue light, and its absence allows unfiltered light to reach the retina, increasing discomfort in bright conditions.^[44]^[45] These symptoms stem from the underlying pathophysiology of optical defocus and reduced light filtration in the aphakic eye.^[5] In children with congenital or early-acquired aphakia, symptoms include delayed visual development, often manifesting as amblyopia if the condition remains uncorrected during critical periods of visual maturation.^[46] Untreated bilateral aphakia from birth can further lead to nystagmus, characterized by involuntary eye oscillations as the brain seeks visual input.^[47] These functional impairments highlight the importance of prompt optical correction to support normal visual growth.^[46]

Diagnosis

History and Physical Examination

The diagnosis of aphakia begins with a thorough patient history to identify potential etiologies. Clinicians inquire about recent ocular surgery, such as cataract extraction, or trauma that may have led to lens dislocation or removal.^[3] For congenital cases, history includes antenatal factors like maternal infections (e.g., rubella) and perinatal events, as well as family genetic history to assess for associated syndromes such as those involving FOXE3 or GJA8 mutations.^[48]^[9] Visual acuity assessment is a cornerstone of the physical examination, typically revealing reduced Snellen scores due to severe hyperopia and loss of accommodation.^[2] Pinhole testing often improves acuity, confirming the refractive nature of the deficit rather than media opacity or retinal pathology.^[49] In pediatric patients, age-appropriate methods such as fixation preference or Teller acuity cards are used to quantify vision and detect early deprivation amblyopia.^[48] The basic ocular examination employs slit-lamp biomicroscopy to confirm lens absence and identify signs like iridodonesis (tremulous iris).^[3] Fundoscopy provides a clear retinal view unimpeded by the lens, allowing evaluation for associated abnormalities such as macular hypoplasia.^[48] Confrontation visual field testing assesses peripheral vision integrity, which may be normal unless complicated by other factors.^[50] In children, particular attention is given to fixation preference to gauge amblyopia risk, with unilateral aphakia heightening the need for prompt intervention to prevent irreversible vision loss.^[48]

Imaging and Ancillary Tests

Slit-lamp biomicroscopy serves as the primary imaging modality to confirm the absence of the crystalline lens in aphakia and to evaluate the integrity of anterior segment structures, including the cornea, iris, and capsule remnants. This technique allows for detailed visualization of the iridodonesis and vitreous herniation often observed in aphakic eyes, facilitating differentiation from other conditions like pseudophakia.^[51] In cases of media opacity that obscures direct fundus visualization, ultrasound biomicroscopy (UBM) and B-scan ultrasonography provide critical ancillary evaluation of the anterior and posterior segments, respectively. UBM offers high-resolution imaging (up to 50 μm) of the anterior chamber angle, iris configuration, and ciliary body, which is particularly useful for identifying pupillary block or adhesions in aphakic eyes following congenital cataract surgery. B-scan ultrasonography, with its ability to penetrate opaque media, enables assessment of the vitreous, retina, and choroid for detachments or other posterior abnormalities not visible clinically.^[52]^[53] Biometry plays a pivotal role in preoperative planning for secondary intraocular lens (IOL) implantation in aphakic patients by accurately measuring axial length, typically using optical or ultrasound methods to achieve precision within 0.1 mm for optimal refractive outcomes. This measurement is essential, as aphakic eyes may exhibit altered axial lengths due to surgical history, influencing IOL power calculations via formulas like SRK/T or Holladay.^[54] Optical coherence tomography (OCT), particularly spectral-domain variants, is employed to assess retinal architecture in aphakic eyes, detecting subtle changes such as cystoid macular edema or epiretinal membranes that could impact visual prognosis. High-resolution cross-sectional imaging (axial resolution ~5 μm) allows for quantitative evaluation of macular thickness and integrity, guiding management decisions in postoperative monitoring.^[55] Pupil function tests quantify dilation deficits in aphakia, often using a combination of 1% tropicamide and 2.5-10% phenylephrine to measure maximum pupil diameter under standardized lighting conditions. These assessments reveal reduced mydriatic response post-cataract extraction, aiding in surgical planning for IOL fixation or capsular tension ring use.^[56]

Complications

Aphakia, particularly when acquired through surgery or trauma, can lead to several serious complications that require ongoing monitoring. Glaucoma is a frequent complication, including both open-angle and angle-closure forms, often arising from cataract extraction or in pediatric cases due to surgical interventions or developmental factors.^[3]^[26] Retinal detachment and tears represent another significant risk, potentially resulting from the absence of the lens or associated surgical procedures.^[3]^[26] Corneal issues, such as bullous keratopathy or edema, may develop, especially in untreated or post-surgical aphakia, leading to discomfort and vision impairment.^[26] Additional post-surgical complications include cystoid macular edema, increased intraocular pressure, iritis, and posterior capsule opacification.^[26] In children, these risks are heightened, with glaucoma and potential lens reproliferation into the visual axis noted in long-term follow-up studies.^[57]

Treatment

Nonsurgical Options

Nonsurgical management of aphakia primarily involves optical correction to restore visual function without invasive procedures, focusing on spectacles and contact lenses to compensate for the absence of the crystalline lens.^[5] Spectacle correction utilizes high-power plus lenses, typically ranging from +10 to +20 diopters or higher, to address the significant hyperopia resulting from aphakia; for instance, adult prescriptions may reach +24 diopters, while infant requirements can exceed +45 diopters due to smaller axial lengths.^[5] However, these thick lenses introduce limitations, including substantial weight that causes discomfort and slippage, as well as optical aberrations such as spherical aberration, coma, chromatic aberration, and a peripheral ring scotoma, which degrade peripheral vision and overall image quality.^[5] Spectacles are generally suitable only for bilateral aphakia with minimal interocular power differences (≤3 diopters) and are avoided in unilateral cases to prevent aniseikonia and associated diplopia.^[5] Contact lenses offer a more effective alternative by providing better cosmesis, reduced magnification (approximately 6-7% compared to spectacles' 20-30%), and improved binocular vision, particularly in unilateral aphakia.^[5] Soft contact lenses, including silicone hydrogel varieties, are commonly used for their comfort and ease of insertion, while rigid gas-permeable (RGP) lenses are preferred for cases with irregular astigmatism or higher powers due to their stability and oxygen permeability.^[5] Extended-wear silicone elastomer lenses, such as those made from elastofilcon A, support continuous wear for up to 30 days but require weekly removal for cleaning and disinfection to minimize deposition of lipids, proteins, and mucous, with replacement every 3-6 months to account for lens degradation and ocular growth.^[58]^[59] In pediatric patients, particularly infants with congenital cataract-related aphakia, contact lenses are the preferred initial correction method, as demonstrated by the Infant Aphakia Treatment Study (IATS), a multicenter randomized trial that compared contact lens correction to intraocular lens implantation.^[60] The IATS utilized silicone elastomer lenses in 74% of aphakic eyes, fitted with a 2.0 diopter overcorrection to dynamically address hyperopia and support near vision at 50 cm, enabling adjustable power increments (e.g., +23.00 to +32.00 diopters in 3 diopter steps) as the child grows.^[60] This approach facilitates visual development and amblyopia prevention without surgical risks in early infancy.^[60] As an adjunct to optical correction, pharmacologic penalization with atropine eye drops (1%) in the fellow eye treats associated amblyopia by blurring vision in the non-aphakic eye, promoting use of the aphakic eye; this method is as effective as patching for moderate amblyopia and may improve compliance in children over 3 years.^[61]^[62] Atropine is often combined with patching for enhanced efficacy in severe cases.^[62]

Surgical Interventions

Surgical interventions for aphakia primarily aim to restore refractive power through intraocular lens (IOL) implantation or address residual errors via refractive procedures. Primary IOL implantation is typically performed during cataract extraction surgery to correct aphakia immediately. However, in pediatric cases, it is generally avoided in infants under 6 months of age due to the eye's ongoing growth, which can lead to refractive instability and complications such as visual axis opacification requiring reoperation.^[63] For children older than 6 months, primary IOL placement in the capsular bag is preferred when feasible, as it provides stable optical correction, though it carries risks like secondary glaucoma independent of age at surgery.^[64] Secondary IOL implantation is indicated for acquired aphakia, such as after complicated cataract surgery or trauma, particularly when capsular support is inadequate. Posterior chamber IOL fixation, often in the sulcus or scleral-fixated, is a common approach for these cases, offering good centration and stability. Recent 2024 analyses of pediatric secondary IOL procedures report median visual acuity outcomes of 20/63 in bilateral cases and 20/400 in unilateral cases at 5 years, with low rates of visual axis opacification surgery (2-4% within 3 years). However, glaucoma-related adverse events occur in 12-17% of cases within 3 years, highlighting the need for long-term monitoring.^[65]^[66] Refractive surgery options address residual ametropia following IOL implantation or in aphakic eyes intolerant to nonsurgical corrections. Corneal laser procedures like photorefractive keratectomy (PRK) or laser-assisted in situ keratomileusis (LASIK) are effective for moderate refractive errors, providing predictability and safety with significant reductions in spherical equivalent and cylinder. For higher errors or when corneal surgery is contraindicated, piggyback IOL implantation—placing a supplementary lens in the sulcus anterior to the primary IOL—corrects pseudophakic ametropia, though it may increase risks like interlenticular opacification. Studies comparing these methods show LASIK achieving better refractive stability than piggyback IOL in some post-cataract scenarios.^[67]^[68] Advances in pediatric aphakia management, informed by long-term follow-up from the Infant Aphakia Treatment Study (IATS), continue to emphasize caution with early IOL implantation. Updates through 2024-2025 recommend contact lens correction over primary IOL for infants under 7 months to minimize complications like visual axis opacification and adverse events, as IATS data showed no visual acuity benefit from IOL at 12 months but higher reoperation rates. Techniques like bag-in-the-lens IOL placement show promise in reducing opacification risks for older infants, though further prospective studies are needed.^[63]

Prognosis

The prognosis for aphakia varies depending on the cause, age at onset, and timeliness of treatment. With appropriate optical correction and surgical interventions, most patients achieve functional vision, though full restoration to normal acuity is not always possible, particularly in pediatric cases.^[3]^[2] In adults, aphakia resulting from cataract surgery typically has a favorable outcome when an intraocular lens (IOL) is implanted, allowing for good visual acuity and minimal complications with proper postoperative care. Acquired aphakia from trauma may have a slightly poorer prognosis due to associated injuries, but early correction often yields satisfactory results.^[3] For children, especially those with congenital or unilateral aphakia, the prognosis is more guarded without prompt intervention. Untreated aphakia in infancy can lead to irreversible amblyopia, with studies showing that only about 10-12% of pediatric patients achieve age-normal visual acuity (20/20 to 20/30), while 48% may reach better than 20/200. However, with early surgery, consistent use of contact lenses or glasses, and amblyopia therapy (e.g., patching), many children attain useful vision, with long-term best-corrected visual acuity of 20/40 or better in up to 34% of cases in some cohorts. Compliance with treatment and avoidance of complications like glaucoma improve outcomes significantly. Lifelong monitoring is essential to manage potential issues such as retinal detachment or glaucoma, which can adversely affect prognosis if not addressed.^[2]^[69]^[70]^[71]

History and Etymology

Historical Development

The recognition of aphakia traces back to ancient medical observations of lens displacement following trauma or disease in the 5th century BCE.^[18] Early treatments focused on cataract management, with couching—a technique to dislodge the opaque lens into the vitreous—documented in ancient Indian texts like the Sushruta Samhita (circa 600 BCE), which indirectly highlighted the visual deficits akin to aphakia post-procedure.^[72] These ancient accounts laid the groundwork for understanding lens-related visual impairment, though surgical removal was not yet practiced, and correction relied on rudimentary spectacles or no intervention. In the 18th century, surgical advancements marked a pivotal shift toward deliberate lens extraction to address aphakia. French surgeon Jacques Daviel pioneered the first planned extracapsular cataract extraction in 1750, involving a corneal incision to remove the lens nucleus while leaving the capsule intact, thereby creating iatrogenic aphakia that required thick aphakic spectacles for correction.^[73] This extracapsular method reduced some risks of couching but often led to complications like inflammation. By the mid-19th century, intracapsular extraction gained prominence; Albrecht von Graefe refined the technique in the 1860s with a linear keratotomy and forceps, allowing complete lens removal including the capsule, which became the standard for adult cataract surgery until the mid-20th century despite higher risks of vitreous loss and retinal detachment.^[72] These innovations improved surgical outcomes but underscored the challenges of managing postoperative aphakia without effective refractive correction. The 20th century brought transformative milestones in aphakia management through intraocular lens (IOL) implantation and refined extraction methods. In 1949, British ophthalmologist Harold Ridley implanted the first artificial IOL made of polymethylmethacrylate during cataract surgery at St. Thomas' Hospital in London, directly addressing the refractive errors of aphakia by restoring optical focus within the eye; this innovation, inspired by inert material observations in World War II pilots, revolutionized post-surgical vision despite initial skepticism and complications.^[74] By the 1970s, Charles Kelman introduced phacoemulsification in 1967, using ultrasonic emulsification for extracapsular extraction through a smaller incision, which gained widespread adoption in the decade and minimized trauma while facilitating IOL placement to mitigate aphakia.^[18] In recent decades, focus has shifted to pediatric aphakia, particularly congenital cases. The Infant Aphakia Treatment Study (IATS), a multicenter randomized trial initiated in 2005, has provided critical evidence on managing unilateral infantile cataracts by comparing primary IOL implantation versus contact lens correction of aphakia, with long-term follow-up emphasizing amblyopia treatment and glaucoma risks.^[75] Analyses of 10-year outcomes published in 2021 reveal a cumulative risk of glaucoma-related adverse events of 22% and 40% including glaucoma suspects in aphakic eyes, highlighting the importance of early, consistent patching for visual acuity gains and no significant difference in best-corrected visual acuity between treatment groups at 12 months; these findings inform current guidelines to delay IOLs in infants under 2 years while optimizing contact lens use.^[76] These developments underscore an ongoing evolution toward safer, more tailored interventions for aphakia across age groups.

Etymology

The term aphakia originates from New Latin, derived from Ancient Greek roots: the privative prefix a- (ἀ-, meaning "without" or "absence of") combined with phakós (φᾰκός, meaning "lentil," an allusion to the biconvex, lentil-like shape of the eye's crystalline lens), and the noun suffix -ia (-ῐ́ᾱ).^[77]^[78] The word was coined in 19th-century medical literature, with its earliest documented English usage appearing in 1864 in a translation by W. D. Moore of a German ophthalmology text.^[77] Related terms, such as phakia (denoting the presence of the natural crystalline lens), share the same Greek root phakós and emerged concurrently in ophthalmic nomenclature.^[79] By the early 20th century, aphakia had become a standardized term in ophthalmology texts, reflecting the growing precision in describing post-cataract extraction states and lens-related anomalies.^[80]

References

[1]
What Is Aphakia? - American Academy of Ophthalmology
Dec 10, 2021 · Aphakia means not having a lens inside your eye. Without a lens, the eye is out of focus and vision is blurry.Missing: authoritative | Show results with:authoritative
[2]
Aphakia: What It Is, Causes, Symptoms & Treatment - Cleveland Clinic
Aphakia means that you don't have a lens in one or both eyes. This can happen at birth or because of an injury or surgery.Missing: authoritative | Show results with:authoritative
[3]
What Is Aphakia? - WebMD
Sep 3, 2024 · Aphakia is a condition in which you're missing the lens of one or both of your eyes. You can be born that way or lose the lens due to an injury.Missing: authoritative | Show results with:authoritative
[4]
Prescribing Glasses for Aphakia - StatPearls - NCBI Bookshelf
May 29, 2023 · Aphakia is the absence of the crystalline intraocular lens. Individuals may develop aphakia as a consequence of a rare genetic disorder, ...
[5]
Secondary congenital aphakia - PMC - NIH
Introduction. Aphakia is defined as the absence of the lens. Aphakia can be congenital due to the intrauterine anomalies and acquired due to the surgical ...
[6]
Intraocular Lenses for Infants With Aphakia - NCBI Bookshelf - NIH
Aphakia is corrected with glasses or contact lenses (CLs), in which case the patient still has aphakia, or with an artificial, intraocular lens (IOL) ...<|control11|><|separator|>
[7]
Anophthalmia and microphthalmia - PMC - PubMed Central - NIH
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
[8]
Congenital primary aphakia | About the Disease | GARD
Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing.Missing: definition | Show results with:definition
[9]
Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of ...
Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the ...
[10]
Prevalence of cataract and pseudophakia/aphakia among adults in ...
An estimated 20.5 million (17.2%) Americans older than 40 years have cataract in either eye, and 6.1 million (5.1%) have pseudophakia/aphakia.
[11]
Aphakia Market Size, Growth Analysis & Share Forecast (2025-2032)
Rating 5.0 (230) Sep 11, 2025 · The aphakia market size is growing with a CAGR of 11.6% during the forecast period (2025-2032), and the market is projected to be valued at USD ...
[12]
Congenital primary aphakia - Orphanet
Congenital primary aphakia ; Prevalence: 1-5 / 10 000 ; Inheritance: Autosomal recessive ; Age of onset: Antenatal, Infancy, Neonatal.
[13]
Pediatric traumatic cataracts: 10-year experience of a tertiary referral ...
May 2, 2022 · Ocular trauma in childhood is a common cause of preventable vision loss in developing countries, and traumatic cataracts make up 12–46% of ...Missing: prevalence | Show results with:prevalence<|separator|>
[14]
Global prevalence of childhood cataract: a systematic review | Eye
Aug 12, 2016 · In Ethiopia, unoperated cataract or aphakia accounted for 9.2% of blindness in schools for the blind. With significant reductions in some of ...
[15]
Epidemiological and Clinical Profiles of Childhood Cataract Seen at ...
Apr 13, 2020 · Acquired cataract represented 37.5% of case. They were all unilateral and 90.5% were post-traumatic. Congenital cataract represented 62.5% of ...
[16]
The Evolution of Cataract Surgery - PMC - NIH
In 1967, an American ophthalmologist, Charles Kelman, revolutionized cataract surgery when he introduced phacoemulsification (often referred to as “phaco”) as ...
[17]
[PDF] Lens absorption and aphakia secondary to trauma - DergiPark
Jul 26, 2015 · Consequently, lens absorption should always be considered in cases with aphakia secondary to trauma.
[18]
Cataract Surgery After Vitrectomy/Phacovitrectomy - EyeWiki
Sep 30, 2025 · The most frequent complication of pars plana vitrectomy (PPV) is cataract formation, particularly nuclear sclerotic cataract.Background · Post-operative considerations · Surgical Management
[19]
Lens-Induced Inflammation - StatPearls - NCBI Bookshelf
Jan 1, 2022 · Lens-induced inflammation occurs in various clinical scenarios, including leakage of lens proteins through an intact lens capsule in advanced ...
[20]
congenital primary aphakia - National Organization for Rare Disorders
Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular ...Missing: causes symptoms
[21]
Clinical and experimental advances in congenital and paediatric ...
One consanguineous family has been described with a homozygous nonsense mutation in FOXE3 causing primary congenital aphakia, microphthalmia and complete ...
[22]
Mutation Update of Transcription Factor Genes FOXE3, HSF4, MAF ...
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects ...
[23]
Aphakia - an overview | ScienceDirect Topics
Recently, autosomal recessive mutations in the FOXE3 gene have been identified in some pedigrees with PCA.8 Secondary congenital aphakia occurs as a result of ...
[24]
Genetics of the anterior segment dysgenesis - PMC - NIH
Congenital primary aphakia is a severe panocular dysgenesis characterized primarily by aborted lens development during the 4th week of gestation due to failure ...
[25]
Monofocal Intraocular Lenses - StatPearls - NCBI Bookshelf - NIH
Monofocal intraocular lenses are indicated for the visual correction of aphakia after extracapsular cataract extraction. Such lenses have a single focus and are ...
[26]
Dyschromatopsia following cataract surgery - PubMed
Although a transient blue discoloration (cyanopsia) might be expected ... Aphakia, Postcataract / complications; Cataract Extraction / adverse effects ...
[27]
The Effects of Surgical Factors on Postoperative Astigmatism in ...
The aim of this study is to assess the amount of resultant corneal astigmatism with regard to modality of aphakia treatment, age at the time of surgery, ...
[28]
[PDF] Textbook of Ophthalmology
pressure and forward displacement of the iris and the lens. Complications ... Deep anterior chamber, tremulousness of the iris. (iridodonesis) and a jet ...
[29]
A rare presentation of bilateral dislocated lens in a patient with ... - NIH
May 25, 2020 · Anterior segment evaluation revealed a quiet eye with a deep anterior chamber (AC), iridodonesis, aphakia in RE, and focal corneal edema ...
[30]
Artisan Aphakic Lens for Cataract Surgery in Anterior ... - NIH
Dec 19, 2012 · Iridodonesis and phacodonesis were evident during slit lamp examination. Anterior chamber depth was 5.89 mm, and the diameter of the ...
[31]
Blunt Eye Trauma - StatPearls - NCBI Bookshelf
Vitreous prolapse - Can occur in an anterior chamber associated with subluxated or dislocated cataracts.[55]. Choroid. Choroidal rupture - Usually temporal to ...
[32]
Management Strategies of Ocular Abnormalities in Patients with ...
The zonular weakness and lens instability is frequently complicated by the loss of the capsular bag, vitreous disturbance, and endothelial cell damage.
[33]
Aphakia and Soemmering's Ring Formation
Clinical Features. Absence of the crystalline lens; Very deep anterior chamber; Hyperopia in normal length eye; Soemmering's ring formation as a result of ...
[34]
Aphakia: What Happens When You Lose the Eye's Natural Lens?
Jan 16, 2025 · Aphakia is an ocular manifestation that translates to “without the lens.” Individuals with aphakia have either one or both lenses missing since birth.
[35]
Diagnostic Ophthalmology - PMC - NIH
... deep anterior chamber (3). Complications of lens luxation/subluxation are ... aphakia. However, this requires more technical skill and can be ...
[36]
Aphakia - New - Why MedicoApps?
The typical signs of aphakia are deep anterior chamber, iridodonesis (tremulousness of iris) and a dark pupillary reflex. Only 1st & 2nd Purkinje images are ...
[37]
Aphakia, Congenital Primary | Hereditary Ocular Diseases
There is complete absence of the lens and with it aplasia of the anterior segment including complete absence of the iris, ciliary body, and trabecular ...Missing: definition | Show results with:definition
[38]
[PDF] Major Article
One eye (Case 4) had a vitreous strand in the anterior chamber that was severed using NdYAG laser several months after surgery. One of five patients (Case 2) ...Missing: signs | Show results with:signs<|control11|><|separator|>
[39]
The binocular confusion in unilateral aphakia - PubMed
The first 4 symptoms of binocular confusion concern primarily daytime vision and the fifth symptom concerns nighttime vision. Even with a conventional ...
[40]
[Binocular confusion in unilateral aphakia (author's transl)] - PubMed
In day vision, without strabismus and without correction, the image of the aphakic eye considerbly disturbs binocular vision, though the vision is less than 20 ...
[41]
Glare and contrast sensitivity in contact lens corrected aphakia ...
The effects of glare on contrast sensitivity and high contrast Snellen acuity were investigated in a group of unilaterally aphakic patients with normal ...Missing: source:
[42]
Glare sensitivity in corrected aphakes - PubMed
However, aphakic patients with lesn material, or postop membranes in the the pupil area, were statistically more glare sensitive. These membranes occur when the ...
[43]
https://pubmed.ncbi.nlm.nih.gov/301713/
[44]
Pediatric aphakia | Stead Family Children's Hospital
Jan 9, 2013 · If the brain is denied vision in both eyes from birth, the eyes may develop a jumpy, searching movement. This is called nystagmus. There is a ...
[45]
Pediatric Cataract - StatPearls - NCBI Bookshelf
Spectacles are the earliest form of aphakia treatment. Aphakic glasses with bifocal addition remain the most commonly used option for visual rehabilitation in ...
[46]
Visual Acuity Test (Snellen Eye Test Chart): What It Is
Pinhole visual acuity test: Pinhole visual acuity tests diagnose nearsightedness. Your eye care specialist will ask you to look through a paddle that has one ( ...What Is A Visual Acuity Test... · Types Of Visual Acuity Tests · Test DetailsMissing: aphakia | Show results with:aphakia<|separator|>
[47]
The 8-Point Eye Exam - American Academy of Ophthalmology
May 24, 2016 · 5. Confrontation visual fields. Assess each quadrant monocularly by having the patient count the number of fingers that you hold up. If acuity ...Missing: aphakia | Show results with:aphakia<|separator|>
[48]
A Rare Ocular Anomaly of Congenital Bilateral Aphakia in a Goat Kid
Sep 7, 2024 · Aphakia is commonly associated with anterior segment dysgenesis. The diagnosis can be done with slit lamp biomicroscopy, retinoscopy and ...
[49]
Diagnosis of pupillary block glaucoma after removal of congenital ...
May 17, 2016 · This case report describes a case of bilateral pupillary block glaucoma diagnosed with intraoperative ultrasound biomicroscopy (UBM) after removal of ...Missing: biometry | Show results with:biometry
[50]
Aphakia | Radiology Case - Radiopaedia.org
Jan 24, 2018 · Ultrasound shows non-visualization of right eye lens known as aphakia. Aphakia can be congenital, post-traumatic, post-surgical.
[51]
Biometry for Intra-Ocular Lens (IOL) Power Calculation - EyeWiki
Aug 13, 2025 · Aphakia ... Intraoperative optical refractive biometry for intraocular lens power estimation without axial length and keratometry measurements.
[52]
Assessment of Cystoid Macular Edema in Aphakic and ... - IOVS
Response to treatment was based on follow-up OCT imaging and retinal thickness measurements. Results: : Thirty-four patients underwent KPro placement between ...
[53]
Effect of cataract extraction on the pupil response to mydriatics
Pupil diameters in the dark, in the light, and after mydriasis with tropicamide+ phenylephrine have been measured in 25 patients before and six months after ...
[54]
[PDF] SILSOFT™ - Bausch + Lomb
12. Page 3. The instructions in this booklet apply to Bausch + Lomb SILSOFT™ (elastofilcon A) Contact Lenses for aphakic daily wear and aphakic extended wear.
[55]
Pediatric Contact Lenses: Indications and Management
Sep 15, 2025 · Silsoft offers a high oxygen permeability (Dk 304) and can be worn up to 30 days, although weekly removal is recommended due to potential ...
[56]
The Infant Aphakia Treatment Study Contact Lens Experience
The Infant Aphakia Treatment Study (IATS) is a multicenter, randomized, controlled clinical trial comparing intraocular lens and contact lens treatments after ...
[57]
Amblyopia: Atropine - American Academy of Ophthalmology
Oct 27, 2015 · Atropine is as effective as patching for treating amblyopia, and may be a more acceptable form of treatment to some children and their parents.
[58]
Amblyopia Treatment & Management - Medscape Reference
Jun 6, 2023 · Atropine drops or ointment is instilled in the nonamblyopic eye. This therapy is sometimes used in conjunction with patching or occlusion of the ...
[59]
https://www.reviewofcontactlenses.com/article/pediatric-contact-lenses-indications-and-management
[60]
Update on pediatric cataract surgery - ScienceDirect.com
Aphakic contact lens management. Contact lenses are an excellent option for refractive correction of aphakia following pediatric cataract surgery, particularly ...
[61]
Complications and Outcomes of Secondary IOL Implantation for ...
Oct 1, 2024 · Their analysis demonstrated that eyes with secondary IOL implantation are at risk for glaucoma and that many have suboptimal refractive error.Missing: posterior chamber acquired success rates
[62]
Secondary IOL Implantation Comes With Glaucoma, Hyperopic Risks
Jul 2, 2024 · In secondary IOL implantation for pediatric patients, refractive error is less hyperopic than ideal, and glaucoma risks persist.Missing: posterior chamber success
[63]
The efficacy of LASIK and secondary piggyback IOL implantation for ...
To compare the efficacy of laser-assisted in situ keratomileusis (LASIK) and secondary piggyback intraocular lens (IOL) implantation for residual refractive ...
[64]
Resolving Refractive Error After Cataract Surgery: IOL Exchange ...
Aug 26, 2013 · To evaluate the efficacy, predictability, and safety of three different procedures (intraocular lens [IOL] exchange, piggyback lens ...Missing: aphakia | Show results with:aphakia
[65]
History of Cataract Surgery - EyeWiki
Aug 25, 2025 · Introduction, Previous Surgical Methods, Intraocular Lenses, Modern Cataract Surgery, Future Direction, Conclusion, References
[66]
Jacques Daviel (1696–1762) and the Competition to Extract Cataracts
Aug 20, 2025 · Jacques Daviel became an ophthalmologist in 1734 and secondarily extracted lens fragments by 1748. Three Paris-based eye surgeons, including ...
[67]
Harold Ridley and the invention of the intraocular lens - PubMed
On November 29, 1949, Harold Ridley implanted the first intraocular lens (IOL). This marked the beginning of a major change in the practice of ophthalmology.
[68]
https://www.healio.com/ophthalmology/journals/jrs/2013-10-29-10/%257B0a3a20df-6a8b-4063-a859-031ce7701b7c%257D/resolving-refractive-error-after-cataract-surgery-iol-exchange-piggyback-lens-or-lasik?logout=0
[69]
aphakia, n. meanings, etymology and more | Oxford English Dictionary
OED's earliest evidence for aphakia is from 1864, in a translation by W. D. Moore. aphakia is a borrowing from Latin. See etymology. Nearby entries. apexed, adj ...
[70]
Aphakia | Radiology Reference Article | Radiopaedia.org
Sep 2, 2018 · History and etymology Aphakia is derived from Ancient Greek roots. 'α' (a-) meaning negative, and 'φακος' (phakos) meaning a lentil, and by ...
[71]
Word Root : Origin of Ophthalmic Terms - eOphtha
Here in this section, I have compiled some terms of ophthalmology with their root of origin. ... Aphakia = Greek “a” = Absent, “phaco” = Lens Presbyopia ...
[72]
APHAKIA. By CYRIL WOODFORDE-KETT, FBOA, FSMC, FIOO, FVOA
The literal meaning of Aphakia is "The Condition of an Eye without a Lens", and the absence of the lens may be caused by one or other of the following reasons:—.<|control11|><|separator|>