Peters' anomaly.

While conducting medical aid in Mozambique, a 41 year old African male presented to our eye clinic complaining of visual impairment. The male was found to have Peters' anomaly type 2, a rare congenital ocular malformation leading to sensory amblyopia and glaucoma.

Short Report

While conducting medical aid in Mozambique, a 41-year-old African male presented to our eye clinic with long-standing visual impairment beginning in early childhood. He had no additional ophthalmic or systemic symptoms and reported being otherwise well, including a review of systems that was negative for any findings. Past medical history included multiple respiratory infections in childhood, one case of acute otitis media without treatment, and no surgical history. The patient denied current use of any medications or over-the-counter products. Family history reported positive for cataracts on the paternal side; the maternal side was unknown. Social history elicited light tobacco and no alcohol consumption. Physical examination revealed a male of short stature with dense bilateral cataracts (white arrows) and bilateral adhesions of the iris to the posterior cornea (black arrows). Loss of visual acuity was significant, with the patient detecting only light and hand motion in front of his face. Intraocular pressure taken undilated with a Tonopen measured 24 mmHg bilaterally. Gonioscopy noted open angles with difficult visualization of the trabecular meshwork.

A differential diagnosis for this patient would include:1 congenital cataracts, corneal graft rejection, posterior polymorphous corneal dystrophy, and sclerocornea. However; in lieu of the physical examination revealing dense bilateral cataracts, bilateral iridocorneal adhesions in conjunction with a short stature, these findings are consistent with Peters’ anomaly, a very rare autosomal recessive ocular malformation that can be associated with systemic abnormalities. Systemic abnormalities include: cleft lip and palate, facial dysmorphism, syndactyly, brachycephaly, as well as cardiac, neural, and hearing deficits.2 Most cases are sporadic or recessive; however, there are reports of dominant inheritance in the literature.3 The incidence and prevalence of Peters’ anomaly internationally remains unknown.

Most common gene mutations include PAX64 and FOXC1,5 noting these genes are responsible for ocular embryogenesis. Peters’ anomaly can be classified into two subtypes: Type 1, and Type 2. In Type 1, 80% of cases present bilaterally with central and paracentral corneal opacification. The cornea is typically avascular; iris strands extend from the collarette, and systemic abnormalities are not usually present. In Type 2, cases are commonly bilateral with denser corneal opacification; there is often juxtaposition of the lens, and iris strands may or may not be present.12 The posterior stroma and Descemet membrane is classically malformed.6 The incidence of systemic abnormalities is more common in Type 2.7 In keeping with the examination findings of the patient, we classify this case as Type 2 Peters’ anomaly.

Sensory deprivation, amblyopia, and glaucoma are significant sequelae of Peters’ anomaly.8 It is vital for the ophthalmologist to classify it as either Type 1 or Type 2, and to receive multiple consultations from neonatology and genetics pending a diagnosis following birth.9,10 A later diagnosis recommends that patients undergo molecular genetic testing and receive consults from retina, cornea, and glaucoma specialists. Guidelines recommend the initiation of treatment as early as possible in order to prevent sensory amblyopia.11 While Dorzolamide is available to treat pediatric glaucoma, early surgical intervention is strongly advised.12–15 In a patient presenting with a clear peripheral cornea, peripheral iridectomy is the treatment of choice. Among patients presenting with bilateral corneal opacity and significant visual impairment, penetrating keratoplasty remains the standard of care; additionally, pooled analyses indicate rates of graft clarity between 20%–60%.16–19 In patients with cataract alone, the treatment of choice remains lensectomy and vitrectomy.20 Due to limited resources, our patient received extensive counseling in the medical management of glaucoma and was discharged from our clinic in good spirits.