Adolescent cystinosis: a clinical and specular microscopic study of an unusual sibship

Abstract

Six members of a sibship originally consisting of 8 offspring lived to teenage. Five of these developed the adolescent form of cystinosis. Since adolescent cystinosis is autosomal recessive, such a high incidence of affected members is of uncommon occurrence. Depending on whether the sibship size (n) is known as 6 to 8, it should occur only in approximately 1.5% or 5.8% of sibships of corresponding size. Specular microscopy was used to study the corneal stroma of all 3 of the living, affected members of this sibship and the conjunctiva of one of the siblings. Vivid, needle-shaped crystals were observed in the corneal stroma. Smaller, variably shaped crystals were observed in the conjunctiva. The crystals seen with specular microscopy fit the description of those studied with light and electron microscopy.