Article
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.
Ophthalmology - 1 Sept 1996
Pannarale M R, Grammatico B, Iannaccone A, Forte R, DeBernardo C, Flagiello L, Vingolo E M, Del Porto G
Abstract excerpt
PURPOSE: To report the clinical and functional characteristics of patients affected with autosomal-dominant transmitted retinitis pigmentosa (adRP) from a large Italian pedigree in which a point mutation predicting the Arg-135-Trp change of rhodopsin was identified by polymerase chain reaction-si...
Topics
- Adolescent
- Adult
- Arginine
- Child
- DNA
- Electroretinography
- Female
- Humans
- Longitudinal Studies
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Retina
- Retinitis Pigmentosa
- Rhodopsin