CORNEAL ABNORMALITIES IN A MOTHER AND DAUGHTER WITH FOCAL DERMAL HYPOPLASIA (GOLTZ-GORLIN SYNDROME)

PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. O cular abnormalities frequently found in patients with focal dermal hyp oplasia include microphthalmos, anophthalmos, and colobomas. Corneal a bnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypopl asia with distinctive corneal lesions. RESULTS/CONCLUSION: Several dis crete vascularized peripheral subepithelial corneal opacifications wer e present. bilaterally in both patients with focal dermal hypoplasia, No ocular abnormalities that would predispose to these abnormalities w ere found, These corneal lesions appear to represent an unusual manife station of focal dermal hypoplasia.