Inherited recurrent corneal erosions – a large family with an autosomal dominant inherited disorder

Abstract

Abstract: : Purpose: To describe the phenotype and the preliminary hereditary pattern of a large family with recurrent corneal erosions as a dominating sign, and keloid development in about half of the patients. Methods: A six generation pedigree was constructed of 171 family members. 44 were affected, 26 female and 18 male. Preliminary genetic studies from blood samples and polymorphic markers of telomere and centromere of the TGFB1,GSN,KNT3 and KRT12 was done.Interviews and clinical examination was performed. Results: The disease often starts during the first year of life. Pain, epiphora,and photophobia are the dominating symptoms. The majority has symptoms before five years of age. The intensity of the attacs are most prominent in infancy, teens and early twenties to subside in midlife. The duration of the attacs are 3 days to months. Ointments, bandage lenses and vitamin B formulations has offered some relief as has topical steroids. 57 % develop kelloid–like central ,subepithelial ,slightly protruding corneal opacities.Nine of the affected patients were grafted. All patients had recurrences in the graft periphery within 15 months from surgery.None has been regrafted. The mode of inheritance is autosomal dominant. Conclusions: Analysis of the phenotype and preliminary molecular genetic work–up strongly suggests that this corneal dystrophy has not been described previously.

Keywords: cornea: clinical science • genetics • wound healing