Central crystalline corneal dystrophy.

The purpose of this paper is to report the first family from Great Britain with central crystalline corneal dystrophy and to discuss the pathogenesis of this condition, a well-documented entity (Waardenburg, Franceschetti, and Klein, I96I), the genetical basis of which was first demonstrated in a family of eight by van Went and Wibaut (1924), and confirmed by Schnyder (1927, I929, 1939). The condition is often known as the crystalline corneal dystrophy of Schnyder.. It is transmitted as an autosomal dominant trait, usually with I00 per cent. penetrance (Franceschetti and Forni, I952). The clinical descriptions of reported cases are fairly uniform. The essential feature is the presence of many tiny needle-like crystals in the anterior stroma of the central cornea as seen with the slit lamp. These crystals shine and reflect many different colours. Macroscopically the corneal dystrophy is greyish or brownish in colour, central in position, and usually disciform in shape. The opacity is present in the first few years of life and progresses very slowly, rarely causing significant impairment of vision. There is no vascularization, no irritative phenomena, and no impairment of corneal