Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, app
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa
β Scribed by Rene Goliath; Soraya Bardien; Alison September; Rebecca Martin; Rajkumar Ramesar; Jacquie Greenberg
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 149 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of
Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f