Leber's Congenital Amaurosis With an Ehlers-Danlos-like Syndrome: Study of an American Family

A report is given of a family in which Leber's congenital amaurosis is coexistent with the cutaneous form of the Ehlers-Danlos syndrome. The former is quite rare and the latter probably more common than known. Both disorders appear to follow an autosomal, recessive inheritance pattern. The characteristics, brief review of the literature, and postulated pathogenesis are presented. To our knowledge this paper represents the first example of the coexistence of Leber's congenital amaurosis and an Ehlers-Danlos-like syndrome.