Table 1.
Status of gene evaluations in the author’s laboratory
| Evaluations successfully identifying a correlating phenotype
|
Evaluations not successful in identifying a correlating phenotype
|
||
|---|---|---|---|
| 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 |