Gene |
Correlating Phenotype(s) |
Gene |
Number of patients evaluated |
|
|
|
|
Rhodopsin |
Dominant RP (45), recessive RP (46), dominant stationary night blindness (47) |
Arrestin |
272 unrelated patients evaluated [Oguchi disease by another group (34)] |
Rod transducin, α subunit |
Dominant stationary night blindness (48) |
Rod cGMP-phosphodiesterase, γ subunit |
Over 1,000 unrelated patients evaluated, of whom 704 have been reported (52) |
Rod cGMP-phosphodiesterase, α subunit |
Recessive RP (24) |
Recoverin |
Evaluation of 596 unrelated patients (53) |
Rod cGMP-phosphodiesterase, β subunit |
Recessive RP (49) |
11-cis-retinal dehydrogenase |
Evaluation of 180 patients |
Rhodopsin kinase |
Oguchi disease (35) |
Guanylate cyclase activating protein |
Still actively being evaluated in the author’s laboratory |
Peripherin/rds |
Dominant RP (23), digenic RP (33), retinitis punctata albescens (50) [dominant retinitis pigmentosa and dominant macular dystrophies and cone/rod degenerations by other groups (22,51)] |
IRBP (interphotoreceptor retinoid binding protein) |
Still actively being evaluated in the author’s laboratory |
ROM1 |
Digenic RP (33) |
TULP1 (tubby-like protein-1) (54) |
Still actively being evaluated in the author’s laboratory |