A new hereditary conjunctivo-corneal dystrophy associated with dermal keloid formation. Report of a family.

PURPOSE: To report a previously undescribed hereditary conjunctivo-corneal dystrophic disease associated with keloid formation in a woman and her two sons.
METHODS: We have been able to follow the affected members of the family with clinical examinations over many years. In addition, they have been examined with chromosome analyses and X-ray examination of their hands.
RESULTS: The mother and the oldest son have both shown a very similar clinical development, with fibrovacular tissue gradually covering the cornea, leading to severe visual loss in both eyes. In the youngest boy, the condition started at a later age, and to date only one eye is affected. All three patients have developed keloid scars on their hands.
CONCLUSION: The described condition seems to represent a previously unreported, autosomal dominant inherited disease. A congenital defect in the cell differentiation of the limbus region is discussed as a possible pathogenesis.