Related Experiment Videos
Molecular genetics of retinitis pigmentosa
1Ocular Molecular Genetics Laboratory, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston 02114, USA.
Human Molecular Genetics
|January 1, 1995
Abstract:
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.