单侧色素性静脉旁视网膜脉络膜萎缩伴对侧眼视网膜色素变性：一例报告。
Unilateral pigmented paravenous retinochoroidal atrophy with retinitis pigmentosa in the contralateral eye: A case report.
作者信息
Aoki Shuichiro, Inoue Tatsuya, Kusakabe Mari, Fukushima Masaya, Kitamoto Kohdai, Ogawa Asako, Yamamoto Motoshi, Obata Ryo
机构信息
Department of Ophthalmology, The University of Tokyo, Tokyo, Japan.
出版信息
Am J Ophthalmol Case Rep. 2017 Sep 1;8:14-17. doi: 10.1016/j.ajoc.2017.08.003. eCollection 2017 Dec.
PURPOSE
We describe a sporadic case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) with retinitis pigmentosa (RP) in the contralateral eye.
OBSERVATIONS
a 24-year-old female aware of the narrowing of visual field was examined at our hospital. Funduscopic examination revealed left eye showing retinochroidal atrophy along the retinal veins with pigment accumulation while right eye showing peripheral diffuse retinal pigmented epithelium atrophy with bone spicule pigmentation. Fundus autofluorescence, electroretinogram, visual field test and optic coherent tomography were also performed and obtained results were compatible with funduscopic observation.
CONCLUSIONS AND IMPORTANCE
Simultaneous manifestation of PPRCA and RP observed in this case is rare and supports a shared genetic basis between the two diseases. Further genetic investigations are needed to elucidate the etiology and to properly manage PPRCA.
目的
我们描述了一例散发的单侧色素性视网膜静脉旁脉络膜视网膜萎缩（PPRCA）病例，对侧眼患有视网膜色素变性（RP）。
观察结果
一名24岁自觉视野变窄的女性在我院接受检查。眼底检查发现左眼沿视网膜静脉出现脉络膜视网膜萎缩并伴有色素沉着，而右眼出现周边弥漫性视网膜色素上皮萎缩及骨针状色素沉着。还进行了眼底自发荧光、视网膜电图、视野检查和光学相干断层扫描，所得结果与眼底观察结果相符。
结论与意义
该病例中观察到的PPRCA和RP同时出现的情况较为罕见，支持这两种疾病存在共同的遗传基础。需要进一步进行基因研究以阐明病因并妥善管理PPRCA。
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