Article
Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.
German journal of ophthalmology - 1 Jan 1992
Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E
Abstract excerpt
There is considerable variety among the clinical features of autosomal dominant retinitis pigmentosa (ADRP). This is probably at least in part due to genetic heterogeneity. Recently, various mutations of the rhodopsin gene have been detected in some ADRP families. We report on six patients from two families with ADRP who were investigated by means of psychophysical and electrophysiological methods. All displayed...
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