Article
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Journal of medical genetics - 1 Sept 1992
Kaplan J, Pelet A, Martin C, Delrieu O, Aymé S, Bonneau D, Briard M L, Hanauer A, Larget-Piet L, Lefrançois P
Abstract excerpt
Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical profiles in X linked RP as a function of age and mode of onset. The first clinical form has very early onset with severe myopia. The second form starts later with night blindness with mild myopia or none. At least two...
Topics
- Female
- Genotype
- Humans
- Lod Score
- Male
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Retinitis Pigmentosa
- X Chromosome