Nature 354, 480 - 483 (12 December 1991); doi:10.1038/354480a0

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Kazuto Kajiwara, Lauri B. Hahn, Shizuo Mukai, Gabriel H. Travis^*, Eliot L. Berson & Thaddeus P. Dryja^†

Howe Laboratory of Ophthalmology and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114, USA
^* University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas, Texas 75237, USA
^† To whom correspondence should be addressed.

THE murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate^1–3. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of the rds gene (RDS) that cosegregate with autosomal dominant retinitis pigmentosa in separate families. Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus.

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