A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium.
A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium.
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DOI：
10.1177/1120672120962027
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发表时间：
2022-01
影响因子：
1.7
通讯作者：
Fan, Wen
中科院分区：
文献类型：
--
作者：
Qiu, Aowang;Yu, Yan;Huang, Junlong;Liu, Qinghuai;Paulus, Yannis M.;Fan, Wen
关键词：
白斑性视网膜炎（RPA）通常通过视网膜中存在随时间进展的许多簇白色点状病变来诊断，并且与几种基因变异相关。先天性视网膜色素上皮细胞肥大（CHRPE）的多灶性变异的特征是多个、成组、界限清楚的色素斑。PRPH2基因编码光感受器特异性糖蛋白，其对于视杆和视锥光感受器外节的形态发生是必需的。一名39岁的中国女性患有夜盲症，主诉视力模糊，表现为RPA和CHRPE共存的独特特征。散瞳眼底检查显示双眼有许多瓷状白色离散点，左眼有多个小而扁平的圆形棕色至黑色色素性病变簇。全视野视网膜电图（ERG）显示标准暗适应后反应降低，长时间（4小时）暗适应后b波振幅正常。在先证者中检测到杂合PRPH2剪接变体。此外，在她的母亲、儿子和女儿身上也发现了同样的变异。我们描述了一个PRPH2变异在一个罕见的情况下，RPA与多灶性CHRPE的同一个人。
Retinitis punctata albescens (RPA) is generally diagnosed by the presence of numerous clusters of white punctate lesions in the retina that progress over time and are related to several gene variants. The multifocal variant of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is characterized by multiple, grouped, sharply circumscribed, pigmented spots. The PRPH2 gene encodes a photoreceptor-specific glycoprotein, which is essential for the morphogenesis of rod and cone photoreceptor outer segments. A 39-year-old Chinese female with nyctalopia, complained about blurred vision, presented a unique co-existing feature of RPA and CHRPE. Dilated fundus exam demonstrated numerous porcelain white discrete dots in both eyes and multiple, small, flat clusters of round brown to black pigmented lesions in the left eye. The full field electroretinography (ERG) showed decreased responses after standard dark adaptation and normal b-wave amplitudes after a long (4-hour) dark-adapted period. A heterozygous PRPH2 splicing variant was detected in the proband. In addition, the same variant was found in her mother, her son, and her daughter. We describe a PRPH2 variant in a rare case of RPA associated with multifocal CHRPE of the same individual.
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