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. 1997 Oct 28;94(22):12117–12121. doi: 10.1073/pnas.94.22.12117

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