Kuniyoshi Kazuki, Sakuramoto Hiroyuki, Yoshitake Kazutoshi, Ikeo Kazuho, Furuno Masaaki, Tsunoda Kazushige, Kusaka Shunji, Shimomura Yoshikazu, Iwata Takeshi
Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama City, Osaka, 589-8511, Japan,
Doc Ophthalmol. 2015 Aug;131(1):71-9. doi: 10.1007/s10633-015-9497-7. Epub 2015 Apr 1.
To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents.
We studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed by the next-generation sequence technique.
The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual field, and non-recordable ERGs. Their parents were non-symptomatic and had normal fundi; however, their rod ERGs were reduced. Genetic examination revealed compound heterozygous mutations of I535N and H557Y in the PDE6B gene in the siblings, and the parents were heterozygous carriers of the mutations.
Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.
介绍两名患有常染色体隐性遗传性视网膜色素变性（RP）的兄弟姐妹及其无症状父母的临床和基因检测结果。
我们研究了两名兄弟姐妹，一名48岁女性及其44岁的兄弟，以及他们的父母。他们接受了包括检眼镜检查、视野检查和视网膜电图（ERG）在内的全面眼科检查。通过下一代测序技术分析了他们的全外显子组。
这两名兄弟姐妹长期患有夜盲症，临床检查发现弥漫性视网膜变性伴骨针状色素沉着、视野缩小和无法记录到视网膜电图。他们的父母无症状且眼底正常；然而，他们的视杆细胞视网膜电图有所降低。基因检测发现，这两名兄弟姐妹的PDE6B基因存在I535N和H557Y复合杂合突变，其父母是这些突变的杂合携带者。
PDE6B基因中的杂合突变可导致视杆细胞功能不同程度降低。对于常染色体隐性遗传性视网膜色素变性无症状携带者的视网膜功能应谨慎评估。
