Article
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Molecular vision - 30 Dec 1999
Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway B P, Young J E, Han D P, Khani S C
Abstract excerpt
PURPOSE: Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with characteristic light yellow flecks of unknown composition that typically spare the macula. A defect in the transport or utilization of visual cycle retinoids is thought to underlie this recessive disorder with variable clinical expression. To elucidate the molecular defect we considered...
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