单眼视网膜色素变性一例

A Case of Monocular Retinitis Pigmentosa

摘要: 原发性视网膜色素变性(primary pigmentary degeneration of retina)亦称为色素性视网膜炎(retinitis pigmentosa, RP)，是一组以进行性感光细胞及色素上皮功能丧失为共同表现的遗传性视网膜变性疾病，是一种比较常见的毯层-视网膜变性(tapetoretinal degeneration)，以夜盲、进行性视野损害、眼底色素沉着和视网膜电图异常或无波为其主要临床特征，也是世界范围内常见的致盲性眼病。临床上“双眼视网膜色素变性”较为常见，“单眼视网膜色素变性”较为罕见，国内外杂志上也有报道。本篇病例报道介绍一例“典型的单眼视网膜色素变性”，从眼底照等临床上的检查结果以及基因检测分析此病例，提高“单眼视网膜色素变性”的诊断率，降低漏诊率。

Abstract: Primary retinal pigment degeneration of retina, also known as retinitis pigmentosa (RP), is a group of hereditary retinal degenerative diseases with common expression of photoreceptor and pigment epithelium, a relatively common blanket layer - retinal degeneration (tapetoretinal degeneration) to night blindness, progressive visual field damage, fundus pigmentation and abnormal electroretinogram or no wave for its main clinical features, but also common worldwide blindness eye disease. Clinically, “binocular retinal pigment degeneration” is more common, “monocular retinal pigment degeneration” is relatively rare, and domestic and foreign magazines have also been reported. This case reports an example of “typical monocular retinal pigment degeneration”, from the fundus and other clinical findings and genetic testing analysis of this case, improving the "monocular retinal pigment degeneration" diagnosis rate, reducing the rate of missed diagnosis.