Familiar case of granular dystrophy and oculocutaneous albinism

• Published in: Archivos de la Sociedad Española de Oftalmología Vol. 81; no. 5; pp. 289 - 291
• Main Authors: Gómez-Valcárcel, M, Ching-Wong, J L, Alvarez-Verduzco, O, Niño-Pecina, A, Villanueva-Mendoza, C
• Format: Journal Article
• Language: Spanish
• Published: Spain 01.05.2006
• Subjects: Adult; Albinism, Oculocutaneous - complications; Albinism, Oculocutaneous - genetics; Corneal Dystrophies, Hereditary - complications; Corneal Dystrophies, Hereditary - genetics; Female; Humans; Pedigree
• ISSN: 0365-6691

A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albinism and granular corneal dystrophy. We found oculo-cutaneous albinism in two brothers and granular dystrophy in three brothers, the mother and a son. Corneal dystrophy is an autosomal dominant disorder inherited independently of oculocutaneous albinism, which is inherited as an autosomal recessive condition. This is the first case report of granular dystrophy concurrent with oculocutaneous albinism.