Rhodopsin Gene Mutations Causing Retinitis Pigmentosa

Functional Phenotypes of Codon 23 and Codon 135 Genotypes
  • Samuel G. Jacobson
  • Colin M. Kemp
  • Artur V. Cideciyan
  • Jeremy Nathans


Major progress in understanding retinitis pigmentosa (RP), a group of hereditary retinal degenerations, occurred with the discovery that some forms of autosomal dominant (ad) RP are caused by mutations in the gene encoding the rod visual pigment, rhodopsin (reviewed in Humphries, et al, 1993). An important question arising from these molecular genetic discoveries is: How does the molecular pathology lead to rod photoreceptor dysfunction and progressive retinal degeneration? A number of different scientific approaches, from molecular to clinical, are being used to try to answer this question. We are studying patients with rhodopsin gene mutations using non-invasive tests of retinal function to try to understand the relationship between the molecular lesions and the clinical phenotype (Jacobson et al, 1991; Kemp et al, 1992a; Jacobson et al, 1994).


Retinitis Pigmentosa Retinal Degeneration Autosomal Dominant Retinitis Pigmentosa P23H Mutation Rhodopsin Mutation 
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Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • Samuel G. Jacobson
    • 1
  • Colin M. Kemp
    • 2
  • Artur V. Cideciyan
    • 1
  • Jeremy Nathans
    • 3
  1. 1.Scheie Eye InstituteUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Department of Ophthalmology, Bascom Palmer Eye InstituteUniversity of Miami School of MedicineMiamiUSA
  3. 3.Departments of Molecular Biology and Genetics and Neurosciences, Howard Hughes Medical InstituteJohns Hopkins University School of MedicineBaltimoreUSA

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