Article
Clinical course and visual function in a family with mutations in the RPE65 gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2002
Felius Joost, Thompson Debra A, Khan Naheed W, Bingham Eve L, Jamison Jeffrey A, Kemp Jennifer A, Sieving Paul A
Abstract excerpt
OBJECTIVE: To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene). METHODS: RPE65 mutation screening was performed on DNA from 2 affected brothers, 1 unaffected brother, both parents, and 3 surviving grandparents using cycle sequencing. Ophthalmic examinations included ophthalmoscopic fundus examination; visual function testing; 2-color,...
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