Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa

Population genetic studies of retinitis pigmentosa.

Joann A. Boughman, P. M. Conneally, W E Nance · PubMed · 1980 · 319 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 287 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Role for the Target Enzyme in Deactivation of Photoreceptor G Protein in Vivo

Stephen H. Tsang, Marie E. Burns, Peter D. Calvert et al. · Science · 1998 · 210 citations

Life Sciences, Molecular Biology, Vision Science +17

Retinal counterion switch in the photoactivation of the G protein-coupled receptor rhodopsin

Elsa C. Y. Yan, Manija A. Kazmi, Ziad Ganim et al. · Proceedings of the National Academy of Sciences · 2003 · 197 citations · Full text

Natural Sciences, Biochemistry, Biophysics +16

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

Michael L. Woodruff, Zhongyan Wang, Hae Yun Chung et al. · Nature Genetics · 2003 · 183 citations

Life Sciences, Genetics, Ophthalmology +8