The aim of this study was to analyze the @entity49331 gene in @entity1 with @entity39583 with and without @entity1020 , and correlate the identified mutations with the electrophysiological results. Twenty-one @entity1 from 19 unrelated Japanese families with @entity39583 were examined. Ten unrelated @entity1 had @entity1020 . In 18 @entity1 , either a homozygous or a compound heterozygous mutation in the @entity49331 gene was identified. The bright-flash, mixed rod-cone @entity9493 had a negative configuration with reduced a-wave amplitudes after a short period of dark-adaptation (20 or 30 min). After a prolonged dark-adaptation period (2 or 3 h), the waveform attained normal amplitudes in @entity1 without @entity1020 but the a-waves were still subnormal in @entity1 with @entity1020 . The photopic @entity9493 responses were significantly reduced in @entity1 with @entity1020 , indicating that they also had @entity6121 . The photopic ERGs were reduced in only some of the @entity1 without @entity1020 . In @entity1 without @entity1020 , the scotopic b-wave amplitudes were nonrecordable or significantly reduced after a short dark-adaptation period but then improved to normal levels. However, they did not fully recover in some @entity1 with @entity1020 . Three @entity1 with @entity1020 in whom a @entity49331 gene mutation could not be detected by our routine method had atypical @entity9493 responses. We conclude that @entity49331 gene mutations cause a progressive @entity6121 or @entity1020 as well as @entity15535 . The clinical phenotype including electrophysiological responses varied among @entity1 with the @entity49331 gene mutations.

@entity49331 gene mutations and electroretinogram in @entity39583 with or without @entity1020 : XXXX mutations and @entity9493 in @entity39583 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity49331 :: ('5959', 'Gene') :: ['RDH5'] @entity39583 :: ('MESH:C562733', 'Disease') :: ['fundus albipunctatus'] @entity15535 :: ('MESH:D009755', 'Disease') :: ['night blindness'] @entity9493 :: ('2078', 'Gene') :: ['ERG'] @entity6121 :: ('MESH:C566719', 'Disease') :: ['cone dystrophy'] @entity1020 :: ('MESH:D008268', 'Disease') :: ['macular dystrophy']
@entity49331 :: (5959,Gene) :: ['RDH5']
