Yoshii M, Murakami A, Akeo K, Fujiki K, Saga M, Mizukawa A, Itoh J, Okisaka S, Yanashima K, Hotta Y, Kanai A, Oguchi Y
Department of Ophthalmology, National Defense Medical College, Tokorozawa-shi, Japan.
Ophthalmic Res. 1998;30(1):1-10. doi: 10.1159/000055448.
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.
为确定一个视网膜色素变性与视紫红质基因突变（即第15密码子由天冬酰胺变为丝氨酸，Asn-15-Ser）共分离的日本家族的表型，对一个家系中的5名患病成员和5名未患病成员进行了多项眼科检查以及全视野视网膜电图（ERG）和多焦ERG检查。通过聚合酶链反应（PCR）扩增、测序和限制性内切酶消化对基因组DNA样本进行分析。在所有患病成员中均发现了第15密码子视紫红质基因突变（Asn-15-Ser）。色素性变性区域位于下半视网膜，视野缺损与视网膜色素改变相对应。暗视ERG振幅降低，而非明视ERG振幅降低。多焦ERG显示即使在上半视网膜（未显示骨小体色素沉着），反应密度也较低。与视紫红质基因第15密码子突变相关的扇形视网膜色素变性的视觉功能基于视杆-视锥营养不良，而不考虑表型表达的差异。
