Continuing Education Activity

Iridocorneal dysgenesis is a broad terminology and encompasses a group of disorders that manifest as abnormal anterior segment anatomy. Anterior segment dysgenesis spectrum has variable prognosis depending upon the type and severity of the disease. Invariably all such patients are at high risk for the development of glaucoma, which can cause morbidity in the young. Early detection by the first point of contact and timely referral can prevent blindness in these patients. This activity reviews the evaluation and treatment of anterior segment dysgenesis and highlights the role of the interprofessional team in timely diagnosis, referral, and treatment.

Objectives:

• Describe the etiology of iridocorneal dysgenesis.
• Review the epidemiology of iridocorneal dysgenesis.
• Summarize the clinical features and evaluation of iridocorneal dysgenesis.
• Explain the management of iridocorneal dysgenesis.

Introduction

Iridocorneal dysgenesis (ICD) refers to the spectrum of disorders secondary to the developmental abnormality of anterior segment structures.[1] The anterior segment structures derived from the neural crest are corneal stroma, endothelium, iris stroma, and trabecular meshwork.[1]

A defective migration or differentiation of neural crest cells during the development of the above-said structures can lead to the development of anterior segment dysgenesis (ASD) and subsequently to glaucoma. Depending on the origin of the developmental abnormalities, the disease can be classified further as anterior segment dysgenesis of neural crest origin (ASD-nc) or non-neural crest origin (ASD non-nc).[1]

Etiology

The neural crest cells are important in the development of anterior segment structures.[2][3] The neural crest cells migrate from the crest of a neural tube on day 24 of embryogenesis.[4] In the eye, it forms corneal keratocytes, endothelium, trabecular meshwork, and iris stroma.[2]

The neural crest cells migrate between surface ectoderm and lens vesicle in three waves:

• The first wave gives rise to the trabecular meshwork and the corneal endothelium.
• The second wave gives rise to the keratocytes, and
• The third wave is the precursor to iris stroma.

By the 7th month of gestation, the anterior segment structures form, the iris insertion recedes back, exposing the trabecular meshwork, and aqueous drainage starts.[5][6] The aberrant migration and abnormal differentiation of the neural crest cells during anterior segment development results in anterior segment dysgenesis.

This impedes the aqueous flow and causes raised intraocular pressure (IOP).[7][5] The disease spectrum encompasses primary congenital glaucoma, iris hypoplasia, aniridia, Axenfeld anomaly, Rieger's anomaly, Peters anomaly,[8] congenital hereditary endothelial dystrophy (CHED), congenital iris ectropion, and sclerocornea.[9][10]

Apart from various environmental and stochastic factors, the role of genetics (PAX6) has also been implicated in anterior segment dysgenesis.[9] The ASD of neural crest origin leads to developmental anomalies of the iris, angle, and posterior cornea. The abnormalities of the first wave result in the development of the Peters anomaly,[8] sclerocornea, and CHED.[11]

The abnormalities of the third wave result in Axenfeld and Rieger's anomaly.[9] Sclerocornea develops by the 7th week of gestation, corresponding to the 20 mm stage of embryogenesis.[12] Chromosomal analysis of representative family members did not reveal any abnormal karyotypes.[13]

Epidemiology

The incidence of primary congenital glaucoma varies across different ethnic groups. The incidence can range from 1/10000 live births to 1/2500 live births.[14][15] As per a study on the Chinese population, congenital glaucoma accounts for 46% of all cases of childhood glaucoma.[16] 

Axenfeld-Rieger anomaly (AXRA) is seen in approximately 1 in 200,000 live births.[1][17] Fifty percent of patients with AXRA develop glaucoma later in childhood or early adulthood.[18][19] The overall incidence of congenital corneal opacity in the US is 2.2 per 100,000, and the Peters anomaly accounts for 1.5 per 100,000.[20] Peters anomaly accounts for 65% of corneal transplants in infants with congenital corneal opacity in the US.[20] 

Aniridia has been noted in around 1.8 of 100,000 births.[21] It is commonly inherited in an autosomal dominant fashion; however, sporadic cases are associated with Wilm tumor.[22] The prevalence of CHED is unknown at the moment. Fifty percent of the cases of sclerocornea have either autosomal dominant or recessive inheritance patterns, and the rest are sporadic.[23] The autosomal recessive forms of sclerocornea are more severe than autosomal dominant ones.[24]

Pathophysiology

Primary Congenital Glaucoma 

There is a failure of posterior movement of the ciliary body to expose the trabecular meshwork.[1] Anderson suggested the formation of excessive collagenous beams in the trabecular meshwork as the cause of failure of posterior migration of the ciliary body.[25] 

Previously, Barkan membrane was considered an important cause; however, it could not be demonstrated.[26] The persistence of neural crest cells at the angle causing outflow resistance has been hypothesized by Kaiser-Kupfer.[5] 

Primary congenital glaucoma (PCG) is an autosomal recessive condition with three loci: the genetic locus (GLC) 3A, 3B, and 3C. GLC3A and 3B have been mapped to the short arm of chromosomes 2 and 1, respectively.[27][28] Mutations of the CYP1B1 gene are associated with PCG.[29][30]

Iris Hypoplasia/Iridogoniodysgenesis 

The primary etiology is considered to be goniodysgenesis; however, clinically, the angle looks normal without any signs of anterior iris insertion.[1]

Axenfeld and Rieger Anomaly

Defective migration, differentiation, and arrested development of neural crest cells manifest as anterior chamber anomaly.[7] When there exists an associated anomaly of facial bones, teeth, and cardiovascular system, it is collectively called as Axenfeld-Rieger Syndrome (ARS).[19] Deletions of chromosomes 4 (4q25) and 13 (13q14) have been identified. Genes implicated are PITX2 (4q25) and FOXC1 (6p25).[31][32]

Peters Anomaly

The defective neural crest cell migration results in an abnormal first wave causing the posterior corneal defect, corneal opacity, and iridocorneal/ kerato-lenticular adhesions.[33]

Aniridia

There are multiple gene mutations responsible for aniridia. Mutations in PAX6, ELP4, and TRIM44 genes are responsible for Aniridia 1, 2, and 3, respectively.[34] 

CHED

The SLC4A11 gene codes for bicarbonate transporter-related protein-1 (BTR-1), responsible for the deturgence of the corneal stroma. A dysfunctional BTR-1 due to mutation in SLC4A11 is responsible for edematous corneal stroma in CHED.[35][36] Previously, CHED was divided into type I (autosomal dominant) and type II (autosomal recessive) depending upon the inheritance patterns; however, both were mapped to chromosome 20.[37] 

In the IC3D classification, the autosomal dominant type of CHED was considered to be similar to a type of posterior polymorphous corneal dystrophy (PPCD).[38] Currently, CHED is identified with an autosomal recessive inheritance pattern.

Sclerocornea

It is due to an abnormal second wave of neural crest cell migration.[39]

Congenital Iris Ectropion

This entity is considered to be due to developmental arrest rather than disorders of neural crest cell migration, proliferation, and differentiation.[40] There is the persistence of primordial endothelium over the iris.[10]

Histopathology

Primary Congenital Glaucoma

The histopathological and electron microscopy studies revealed outflow obstruction and high iris insertion. Deposition of fibrillar collagen, elastin, and other ground substances has been demonstrated.[41]

Axenfeld-Rieger Anomaly

The anteriorly displaced Schwalbe's line is made of dense collagen and ground substance and is covered by a monolayer of spindle cells. Iris stromal fibers are seen bridging the peripheral iris and the Schwalbe line.[19]

Peters Anomaly

On light microscopy, a complete absence of Descemet's-endothelium complex and partial absence of the posterior cornea has been demonstrated.[8] There is a deficiency of lumican, decorin, and other essential proteoglycans responsible for corneal transparency in the posterior cornea.[42][43]

Congenital Aniridia

On histopathological examination, iris muscles are absent with iris hypoplasia. Incomplete cleavage of angle has also been demonstrated.[44]

CHED

On histopathological examination, the peripheral cornea had relatively normal endothelial cells, whereas, in the mid-periphery, the endothelial cells were attenuated. In the central cornea, the endothelial cells were completely absent.[45]

Sclerocornea

In sclerocornea, there is abnormal and disorganized collagenous tissue with vascularized stroma and an absent Bowman's layer.[46]

Congenital Iris Ectropion Syndrome

The iris surface is lined with endothelial cells with hyperplasia of pigmented epithelium of the iris.[47]

History and Physical

Primary Congenital Glaucoma (PCG)

Also known as isolated trabeculodysgenesis or goniodysgenesis. The patient presents with raised intraocular pressure in the first six months of life manifested as enlarged corneal diameter, scleral thinning, and Haab striae.[48] The classical triad of PCG is watering, photophobia, and blepharospasm.[49] 

On examination, one can find anterior insertion of the iris to the trabecular meshwork.[50] This condition is usually not associated with systemic abnormalities; however, similar gonioscopic changes are associated with conditions like Rubenstein Tayabi syndrome, oculocerebrorenal syndrome, and Pierre-Robin syndrome.

Iris Hypoplasia/Iridogoniodysgenesis

Clinically the iris appears gray/brown depending on the color of pigmented epithelium of the iris, which gets exposed due to hypoplastic iris stroma. The iris collarette is either absent or hypoplastic and peripherally located with a normal-appearing angle on the gonioscopy.

Axenfeld-Rieger Anomaly (AXRA)

Prominent Schwalbe's line (posterior embryotoxon) with attached iris processes to the peripheral cornea has been termed Axenfeld anomaly.[51] An associated structural change in the iris, such as corectopia and polycoria, has been termed a Rieger anomaly.[52] 

Though the abnormalities have been described as two separate entities, there is considerable overlap in the clinical features, and this spectrum of abnormalities has been called Axenfeld-Rieger anomaly (AXRA).[19] 

Systemic abnormalities associated with AXRA have been termed as Axenfeld-Rieger syndrome.[53] Facial and dental anomalies are the commonest systemic abnormality. Hypertelorism, maxillary hypoplasia, microdontia, or oligodontia are commonly seen. Other systemic features include umbilical hernia, hypospadias, anal stenosis, and empty sella syndrome.[54][55][54]

Peters Anomaly

This anomaly has classically been described as deficient central endothelium and posterior stroma characterized by central opacity to which iris (Peters anomaly I) or lens attaches posteriorly with the formation of cataract (Peters anomaly II).[56] Type I can further be classified as mild, moderate, and severe, depending on the extent and location of corneal opacification.[33]

Type I can further be classified as mild, moderate, and severe depending upon the location of corneal opacity at the periphery, paraxially, and centrally with or without iridocorneal adhesions, respectively.

Similarly, type II Peters anomaly can also have kerato-lenticular adhesions with and without cataracts. This classification system has been proposed by Elbaz U et al. and has simplified the treatment algorithm in different phenotypic presentations of Type I and II peters anomaly.[33]

Aniridia

It is characterized by the partial or complete absence of the iris.[57] Usually, a stump of the iris is invariably present on gonioscopic examination. The patients usually complain of photophobia and poor vision. The poor vision is primarily due to foveal hypoplasia or optic nerve head hypoplasia, which are important associations with aniridia.[58] 

Patients with aniridia often have nystagmus.[9] Other causes of poor vision are cataracts and corneal opacity (aniridia-associated keratopathy) attributed to corneal vascularization secondary to limbal stem cell deficiency.[59] Cataracts are seen in 50 to 85% of patients with aniridia.[60]

CHED

The patients present with bilateral corneal opacity and poor visual function since early childhood. In patients with early onset, corneal clouding nystagmus can also be noted.[61] On examination, a blueish-gray ground-glass haze with normal corneal diameter is noted.[62] The disease can be detected in the neonatal period if sought.[63]

Sclerocornea

There is non-progressive scleralization of the cornea varying from peripheral corneal scleralization to diffuse corneal involvement.[39] It is often associated with cornea plana.[1] There is a poor demarcation between the cornea and sclera.[64]

Congenital Iris Ectropion

This condition is characterized by non-progressive ectropion of the iris epithelium. Other features include a smooth and cryptless iris surface, dysgenetic angle, high iris insertion, and ipsilateral ptosis.[40]

Evaluation

Primary Congenital Glaucoma

Examining under anesthesia (EUA) is an important technique for evaluating pediatric patients suspected of having the disease. The corneal diameter, intraocular pressure, direct gonioscopy, pachymetry, fundus examination, and axial length are a few important tools in the armamentarium of ophthalmologists to evaluate glaucoma. Serial retinoscopy on each visit ensures early detection of progressive myopia, which is a surrogate marker of disease progression.[65] The angle will appear normal in iris hypoplasia, unlike infantile congenital glaucoma, where high iris insertion will be visible.[25]

Axenfeld-Rieger Anomaly (AXRA)

For suspected Axenfeld-Rieger anomaly, meticulous anterior segment examination, including gonioscopy, is essential to look for prominent anteriorly displaced Schwalbe's line and iris features.[66] A hand-held slit-lamp is used during examination under anesthesia to evaluate the anterior segment. These patients should also be evaluated for systemic features to rule out a syndromic association.[55][54][67]

Peters Anomaly

Anterior segment optical coherence tomography (ASOCT) and ultrasound biomicroscopy (UBM) are important tools for evaluating and decision-making in cases with Peters anomaly. In severe Type I peters anomaly, the posterior segment is evaluated with an ultrasound B-scan. 

Aniridia

For aniridia, a meticulous clinical evaluation is needed to identify the exact cause of decreased vision [including Aniridia-associated keratopathy, cataract, foveal hypoplasia, and optic nerve head hypoplasia].[34]

Depending upon the cause, the prognosis can be labeled. Pre-operative evaluation for cataract surgery is difficult in these patients due to nystagmus, polar cataract, and poor ocular surface.[68]  Glaucoma is an important association with aniridia, with an incidence as high as 75%.[22] So, a thorough evaluation of glaucoma is needed.

CHED

In CHED, anterior segment optical coherence tomography (ASOCT) is used to assess corneal thickness. Examination under anesthesia (EUA) is done to measure intraocular pressure (IOP) and distinguish it from congenital glaucoma. It may have been associated with glaucoma also. CHED is associated with hearing loss in Harboyan syndrome.[69] So, routine audiometric monitoring should be done for these patients.[70][71] 

Sclerocornea

Examination under anesthesia (EUA), ultrasound biomicroscopy (UBM), and ASOCT are essential tools for evaluating sclerocornea. There is a high risk of glaucoma, so close follow-up is needed.[1]

Congenital Iris Ectropion

Congenital iris ectropion needs to be evaluated for glaucoma.

Treatment / Management

Primary Congenital Glaucoma

The treatment of primary congenital glaucoma is largely surgical with a limited role for conservative or medical management. The surgeries are performed at the earliest to prevent irreversible optic nerve damage. Goniotomy under direct visualization in clear media has been an important surgical technique with a relatively good success rate.[72][73] 

Trabeculotomy is useful in cases with hazy media.[74] Goniotomy and trabeculotomy have been described as initial surgical procedures, and trabeculectomy and glaucoma drainage devices have been discussed for refractory cases. Trabeculectomy is an important adjunctive surgical technique with a limited success rate. The procedure was first described by Cairns.[75] 

Some studies suggest that trabeculotomy is as effective as combined trabeculotomy and trabeculectomy.[76] It not only keeps the future option open for trabeculectomy in cases of refractory PCG but also prevents complications associated with trabeculectomy.[77] 

Iris Hypoplasia

Glaucoma due to goniodysgenesis needs treatment.

Axenfeld-Rieger Anomaly

Half of these patients develop glaucoma over the long run. Surgical procedures like trabeculectomy and trabeculotomy are effective in controlling intraocular pressure.[78][79]

Peters Anomaly

As per the phenotypic classification, the treatment algorithm has been simplified. The patients with type I mild disease need observation, whereas one with moderate disease and paraxial involvement requires optical iridectomy or pharmacological pupillary dilatation. In cases with severe type I Peters anomaly, penetrating keratoplasty is the treatment of choice.[33] 

In Peters type II with kerato-lenticular adhesion with small axial corneal opacity, mere optical iridectomy+ cataract extraction improves the vision; however, one with large corneal opacity requires penetrating keratoplasty with or without cataract extraction. Some studies favor selective endothelial removal for Peters anomaly (SEPA), which has been found to be effective in type I Peters anomaly.[80] In the case of a syndromic association, systemic parameters also need to be evaluated and treated.[33]

Aniridia

An evaporative dry eye is secondary to meibomian gland disease (MGD) in patients with aniridia.[81] Topical lubricants help in mitigating dry eye. Dry eye causes exacerbation of the ocular surface instability further and can be prevented by the use of autologous serum and anti-inflammatory agents in early cases of aniridia-related keratopathy. This not only maintains the tear film but also decreases episodes of corneal erosions.[82] 

In cases with significant corneal opacity, corneal transplantation is an option. However, penetrating keratoplasty outcomes are dismal in cases of aniridia.[83] Kerato-limbal allograft (KLAL) has been found to have better survival outcomes than a penetrating keratoplasty graft.[83] A keratoprosthesis is an option in cases with poor chances of graft survival.[84]

For glaucoma, surgical interventions are needed in most cases. Goniotomy, trabeculotomy, trabeculectomy with mitomycin C, combined trabeculotomy and trabeculectomy, and glaucoma drainage devices are the various surgical options.[85] Conventional surgeries have poor outcomes; however, glaucoma drainage devices have been found to have relatively better outcomes.[86]

Cataract surgeries need many considerations and modifications, from incision making to intraocular lens implantation (IOL). The surgical incision should be such that the limbal stem cell damage is minimal; preferably, a scleral incision is made. The continuous curvilinear capsulorhexis (CCC) should be less than 6mm.[68] 

A capsular tension ring is used to prevent future bag instability. Some prefer doing posterior continuous curvilinear capsulorhexis (PCCC) and anterior vitrectomy to avoid YAG capsulotomy in the future.[68] Black diaphragm aniridia IOL is implanted by many; however, this can predispose further to glaucoma.[68] Posterior IOL capture has also been discussed in the literature.[59]

CHED

Penetrating keratoplasty and endothelial keratoplasty are the treatment modalities.[87][88][89] Penetrating keratoplasty (PK) is associated with its inherent higher risks of rejection, so endothelial keratoplasty has taken over penetrating keratoplasty. Non-Descemet stripping automated endothelial keratoplasty (n-DSAEK) and Descemet membrane endothelial keratoplasty (DMEK) have also been discussed in CHED.[90][91] 

Sclerocornea

Depending upon the degree of corneal involvement, the treatment is planned. In cases with cornea plana and peripheral opacification, mere refraction and glasses help. However, in patients with severe corneal scleralization, limbus translocation is combined with penetrating keratoplasty with relatively good outcomes.[92]

Congenital Iris Ectropion

Early intervention in the form of trabeculotomy and trabeculectomy is required.[93]

Differential Diagnosis

Primary congenital glaucoma and CHED are often confused with each other. Both present with ground glass cornea and hence the confusion. The corneal diameter is usually large in congenital glaucoma along with Haab's striae. It is important to distinguish between birth trauma and Haab's striae. Birth trauma-induced breaks in the Descemet membrane are usually vertically oriented, whereas true Haab striae are either horizontally oriented or curvilinear.[94]

AXRA (bilateral involvement) should be distinguished from ICE (iridocorneal endothelial) syndrome (unilateral involvement). 

Sclerocornea and Peter anomaly should be distinguished from other causes of congenital corneal opacities. Sclerocornea is usually bilateral, and Peters anomaly can be unilateral or bilateral. Sclerocornea is often associated with cornea plana.[1]

Congenital aniridia should be distinguished from traumatic aniridia.

The closest differential of congenital iris ectropion is Axenfeld-Rieger anomaly and iridocorneal endothelial syndrome (ICE syndrome).[2] Congenital iris ectropion is usually not associated with iris holes.

Prognosis

Primary Congenital Glaucoma

The outcome of primary congenital glaucoma depends on the age at presentation and disease severity at presentation. Early diagnosis and management are associated with a good outcome.[49] 

Axenfeld-Rieger Anomaly

Frequent follow-up in Axenfeld-Rieger anomaly is essential. Prognosis depends on the age at presentation and disease severity at presentation. Systemic anomalies like cardiac anomalies are associated with a poor prognosis.[95]

Aniridia

In aniridia, conventional glaucoma surgeries have poor outcomes; however, glaucoma drainage devices have been found to have relatively better outcomes.[86] PK outcomes are dismal.[83]

CHED

Endothelial keratoplasties can help in achieving a good outcome. The risks of corneal graft rejection at two years postoperatively have been reported as 1% for DMEK, 12% for DSAEK, and  18% for PK.[96]

Sclerocornea

In sclerocornea with severe corneal scleralization, limbus translocation is combined with penetrating keratoplasty with relatively good outcomes.[92]

Congenital Ectropion

Congenital ectropion associated with glaucoma has a poor prognosis and requires early surgical intervention.[10]

Complications

Primary Congenital Glaucoma

Development of Haab's striae in cases of congenital glaucoma induces significant astigmatism and corneal opacity.[97] There is a progressive increase in the axial length and thus induces significant myopia and amblyopia.[98] If not controlled well, total glaucomatous optic atrophy can set in and lead to blindness.

AXR Anomaly

Glaucoma develops in 50% of the patients with AXR anomaly.[95] 

Peters Anomaly

If it is not treated early, it can lead to dense amblyopia. Post-operative complications inherent to penetrating keratoplasty can be seen.[99][100]

Aniridia

Total limbal stem-cell failure leading to total corneal opacity, persistent epithelial defect, and lenticular subluxations are some of the complications.[101][102]

CHED

Dense amblyopia and risks of graft-related complications are common in CHED.[103]

Sclerocornea

Glaucoma, corneal degeneration, cataract, microphthalmos, nystagmus, esotropia (high hyperopia with astigmatism), and amblyopia are the associated complications.[13]

Congenital Ectropion Syndrome

Congenital glaucoma, juvenile glaucoma, amblyopia, and phthisis are some of the complications.[104][105][106]

Deterrence and Patient Education

It is essential to discuss the disease course with the patients and/or their families. This keeps the patient aware of future risks and thus warrants a timely follow-up. The inherent risk of glaucoma in the above-discussed spectrum of disease should be discussed. Wherever needed, family members should also be examined. 

Enhancing Healthcare Team Outcomes

Primary congenital glaucoma is a treatable condition, and the outcomes are good if diagnosed and treated on time. So is the case with other diseases of the disease spectrum. These patients can either come directly to the ophthalmology clinics or are referred from other specialties. A pediatrician or pediatric surgeon, while treating a patient with multiple syndromic manifestations, can refer the child to the ophthalmology clinic to rule out ocular involvement.

Similarly, an optometrist can raise the alarm and send a referral if he notices abnormally increasing refractive error on serial retinoscopy. So, pediatricians, optometrists, and general ophthalmologists should be primed for the disease. This will ensure timely referrals. Associated systemic abnormalities should be looked for, and appropriate referrals should be made. Patients with maxillofacial abnormalities in AXR anomaly should be sent to maxillofacial departments for needful.[53]

In patients with poor vision, low vision clinic referral should be done to ensure appropriate training of the patients and lifestyle modifications. Prenatal counseling might help in some. Collaboration, shared decision-making, and communication are key elements for a good outcome. The interprofessional care provided to the patient must use an integrated care pathway combined with an evidence-based approach to planning and evaluating all joint activities.

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Disclosure: Prabhakar Singh declares no relevant financial relationships with ineligible companies.

Disclosure: Abhishek Gupta declares no relevant financial relationships with ineligible companies.

Disclosure: Koushik Tripathy declares no relevant financial relationships with ineligible companies.