A New Syndrome of Hereditary Congenital Corneal Opacities, Cornea Guttata, and Corectopia

Bilateral infantile corneal opacities can be caused by anterior segment dysgenesis, corneal dystrophy, congenital glaucoma, inflammation, systemic storage disease, or sclerocornea.^1-5 We describe a mother and son with bilateral superior V-shaped corneal opacities, cornea guttata, and corectopia. This unique combination of anterior segment abnormalities has not, to our knowledge, been reported to be inherited.

A 14-day-old term male infant had bilateral congenital corneal opacities. He could not fix or follow a light source. Slitlamp examination showed dense bilateral superior V-shaped corneal opacities (Figure 1). In the area of opacification, there were a few iridocorneal adhesions and what appeared to be cornea guttata in both eyes. The pupil was drawn superiorly and was occluded by the corneal opacities in both eyes. The lens and fundus could not be visualized. There were no signs of inflammation, systemic dysmorphism, or an intrauterine-derived infection. Preoperative ultrasonography revealed a normal lens and vitreous and no retinal detachment. Inferior iridectomies were performed in both eyes 2 weeks apart starting at the age of 1.5 months. At the latest follow-up examination 2 years later, he had nystagmus but appeared to have reasonably good vision. His refraction was +2.00 +2.00 × 180 OD, and +1.50 +1.25 × 90 OS. The intraocular pressure was normal. There was a mild decrease in the density of the corneal opacities but no change in their surface area during the follow-up period. The optic nerve heads appeared to be smaller than average but were not flagrantly hypoplastic.

The mother of the patient in case 1, at the age of 31 years had a best-corrected visual acuity of 20/40 OD (refraction, −11.25 +5.00 × 120) and 20/60 OS (refraction, −15.00 +5.25 × 90). She had full-thickness superior corneal opacities similar in location but less extensive than those in her son. She had diffuse corneal guttata and a slightly up-drawn pupil in both eyes (Figure 2). Intraocular pressure was normal. Indirect ophthalmoscopy revealed a normal retina in the right eye and several peripheral inferior chorioretinal scars in the left eye. The nature of the chorioretinal scars could not be resolved. She had neurologic signs and symptoms suggestive of multiple sclerosis. There were no other family members with similar ocular abnormalities.

This family presents a unique combination of corneal findings that do not fit into known diseases or syndromes. There is some overlap with Peters anomaly, which is usually a sporadic condition characterized by central corneal opacity and defects in the corneal endothelium, Descemet membrane, and posterior stroma.^1-5 In our 2 patients, the corneal opacities were superior and peripheral, and there were no visible defects in Descemet membrane. Furthermore, the disease trait appeared to be inherited in an autosomal dominant fashion. Axenfeld-Rieger anomaly is also autosomal dominant and includes posterior embryotoxon, iris stromal hypoplasia, corectopia, and polycoria, and it can be complicated by glaucoma.^1-3 Visual acuity is normal. Our patients had reduced visual acuity and did not have posterior embryotoxon, iris stromal hypoplasia, or polycoria; neither had glaucoma. Their corneal opacities were localized and did not progress in surface or density, unlike those of corneal dystrophies or storage diseases. Cornea guttata, such as that in our patients, has not been reported with any of the previously mentioned conditions, to our knowledge.

Optical sector iridectomy is a simple and safe procedure that can improve visual outcome and avoid penetrating keratoplasty.⁴ This procedure was highly effective in our younger patient with corectopia and peripheral corneal opacities.

The authors have no relevant financial interest in this article.

Corresponding author and reprints: Elias I. Traboulsi, MD, Center for Genetic Eye Disease, Cole Eye Institute, the Cleveland Clinic Foundation, i32, 9500 Euclid Ave, Cleveland, OH 44195 (e-mail: traboue@ccf.org).