Kivlin et al. (1986) reported a unique form of hereditary childhood corneal clouding, characterized by recurrent stromal keratitis and vascularization. Male-to-male transmission as well as multiple affected generations without consanguinity indicated autosomal dominant inheritance. Male and female members ... Kivlin et al. (1986) reported a unique form of hereditary childhood corneal clouding, characterized by recurrent stromal keratitis and vascularization. Male-to-male transmission as well as multiple affected generations without consanguinity indicated autosomal dominant inheritance. Male and female members of the family were equally affected. Nonpenetrance was encountered in several persons. Expressivity was also variable; some family members had only transient childhood episodes of ocular inflammation without sequelae. The extent and severity of the disease also varied between the 2 eyes of an affected individual. There was a marked propensity for early recurrence of the disorder after keratoplasty. Pearce et al. (1995) reported a family in which 15 individuals were affected in 4 generations. All affected persons presented with, at a minimum, a circumferential 1- to 2-mm wide band of corneal opacification and vascularization at the level of Bowman membrane and in continuity with the limbus. There was considerable variation in the severity of the corneal changes, with generally more progressive keratitis among older affected persons. Foveal hypoplasia was found in all affected persons. There was no skin or mucous membrane involvement in patients with autosomal dominant keratitis, as has been shown to occur with keratitis in patients suffering from epidermolysis bullosa simplex (226670) by Granek and Baden (1980), in the EEC syndrome (129900) by Mawhorter et al. (1985), or the keratitis-ichthyosis-deafness syndrome (KID; 148210) by Wilson et al. (1991). Keratoendothelitis fugax hereditaria (148200) is distinct from autosomal dominant keratitis, as it is characterized by self-limiting intermittent attacks of keratoendothelitis affecting one or the other eye.