Article
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
Human mutation - 1 Jan 1997
Rehm H L, Gutiérrez-Espeleta G A, Garcia R, Jiménez G, Khetarpal U, Priest J M, Sims K B, Keats B J, Morton C C
Abstract excerpt
A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural hearing loss, and an X-linked pattern of inheritance, a tentative diagnosis of Norrie disease was considered. However,...
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