Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.
The time course of dark adaptation was measured in 10 subjects from three families with autosomal dominant sector retinitis pigmentosa (RP) due to mutations in the first exon of the rod opsin gene. In each subject cone adaptation and the early part of the recovery of rod sensitivity followed the normal time course, but the later phase of rod adaptation was markedly prolonged. The recovery of rod sensitivity is much slower than that reported in any other outer retinal dystrophy. Using a model based upon primate data of rod outer segment length and turnover, we have calculated that the delayed phase of the recovery of rod sensitivity in the RP patients tested following strong light adaptation could be due in part to formation of new disc membrane with its normal concentration of rhodopsin rather than in situ regeneration of photopigment.
Moore
A T
AT
Ophthalmology Department, Addenbrookes Hospital, Cambridge, UK.
Fitzke
F W
FW
Kemp
C M
CM
Arden
G B
GB
Keen
T J
TJ
Inglehearn
C F
CF
Bhattacharya
S S
SS
Bird
A C
AC
D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000503:physiopathology; D025063:Chromosome Disorders; D003623:Dark Adaptation / Q000502:physiology*; D004596:Electroretinography; D005190:Family; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology*; D017299:Rod Opsins / Q000235:genetics; D014794:Visual Fields
D017299:Rod Opsins