Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation.
To determine the phenotype of a Japanese family in which retinitis pigmentosa cosegregates with a rhodopsin gene mutation, i.e. an asparagine-to-serine change at codon 15 (Asn-15-Ser), 5 affected and 5 unaffected members of one pedigree underwent several ophthalmic examinations as well as Ganzfeld electroretinography (ERG) and multifocal ERG. Genomic DNA samples were analyzed by PCR amplification, sequencing and restriction enzyme digestion. A codon 15 rhodopsin gene mutation (Asn-15-Ser) was found in all affected members. The region of pigmentary degeneration was localized in the lower hemiretina, and visual field defects corresponded to the retinal pigmentary changes. Scotopic ERG amplitudes, rather than photopic ERG amplitudes, were reduced. Multifocal ERG revealed a low magnitude of response density, even for the upper hemiretina, which showed no bony corpuscle pigmentation. Visual function in sectorial retinitis pigmentosa associated with rhodopsin gene codon 15 mutation is on the basis of the rod-cone dystrophy, regardless of differences in phenotypic expression.
Yoshii
M
M
Department of Ophthalmology, National Defense Medical College, Tokorozawa-shi, Japan. masaruy@mb.infoweb.or.ip
Murakami
A
A
Akeo
K
K
Fujiki
K
K
Saga
M
M
Mizukawa
A
A
Itoh
J
J
Okisaka
S
S
Yanashima
K
K
Hotta
Y
Y
Kanai
A
A
Oguchi
Y
Y
D000328:Adult; D000368:Aged; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D017931:DNA Primers / Q000737:chemistry; D003623:Dark Adaptation / Q000502:physiology; D004591:Electrophoresis, Polyacrylamide Gel; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014785:Vision, Ocular / Q000502:physiology*
D003062:Codon; D017931:DNA Primers; D004247:DNA; D012243:Rhodopsin