Nakazawa M, Xu S, Gal A, Wada Y, Tamai M
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Arch Ophthalmol. 1996 Mar;114(3):318-22. doi: 10.1001/archopht.1996.01100130314016.
To describe the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa, the locus of which has been mapped on chromosome 19q.
Ophthalmologic testing, including visual acuity, slit-lamp biomicroscopy, and fundus examinations, for all family members examined. Selected members underwent kinetic visual field testing, electroretinography, and fluorescein angiography.
Eleven symptomatic members, two asymptomatic obligate carriers, and nine nonaffected members in four generations of a single family with autosomal dominant retinitis pigmentosa.
Asymptomatic carriers showed mildly affected fundus and fluorescein angiographic images. Visual field testing disclosed restricted central and midperipheral fields. Electroretinograms disclosed reduced amplitudes of rod-isolated responses in both of these family members, indicating functional abnormalities.
Marked variability in expressivity of the retinitis pigmentosa phenotype was found in a family with autosomal dominant retinitis pigmentosa linked to chromosome 19q.
描述一个常染色体显性遗传性视网膜色素变性的日本家族的临床特征，该家族致病基因位点已被定位到19号染色体长臂。
对所有接受检查的家庭成员进行眼科检查，包括视力、裂隙灯显微镜检查和眼底检查。部分成员接受了动态视野测试、视网膜电图检查和荧光素血管造影检查。
一个患有常染色体显性遗传性视网膜色素变性的家族的四代人中，有11名有症状的成员、2名无症状的必然携带者和9名未受影响的成员。
无症状携带者的眼底和荧光素血管造影图像有轻度改变。视野测试显示中央和中周边视野受限。视网膜电图显示这两名家族成员的视杆细胞单独反应振幅降低，表明存在功能异常。
在一个与19号染色体长臂连锁的常染色体显性遗传性视网膜色素变性家族中，发现视网膜色素变性表型的表达存在显著变异性。
