相关性视网膜营养不良：两例具有先前未描述表型的罕见和新型变异报告。
related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
作者信息
Al-Hindi H, Chauhan M Z, Sanders R, Samarah H, DeBenedictis M, Traboulsi E, Uwaydat S H
机构信息
Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, USA.
出版信息
Ophthalmic Genet. 2022 Apr;43(2):277-281. doi: 10.1080/13816810.2021.2010769. Epub 2021 Dec 5.
PURPOSE
To report on two rare and one novel pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.
METHODS
Case report.
RESULTS
A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy. In both patients, a unique pattern of perivascular retinal degeneration was noted. Electroretinography was consistent with a cone-rod dystrophy. Sequence analysis identified pathogenic variants in the gene c.1087 G > A, p.(Gly363Arg); c.1568 G > A, p.(Cys523Tyr); and c.821delA, p.(Lys274ArgfsTer36).
CONCLUSION
Patients with -related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.
目的
报告两名患者中两个罕见的和一个新的致病变异，这些变异与一种先前未被描述的视网膜变性表型相关。
方法
病例报告。
结果
一名4岁和一名19岁女性表现出视力下降和双侧牛眼黄斑病变。在两名患者中，均观察到一种独特的视网膜血管周围变性模式。视网膜电图与锥杆营养不良一致。序列分析在基因中鉴定出致病变异c.1087 G>A，p.(Gly363Arg)；c.1568 G>A，p.(Cys523Tyr)；和c.821delA，p.(Lys274ArgfsTer36)。
结论
与相关视网膜营养不良的患者可出现具有独特黄斑变性模式和动脉周围血管色素沉着的独特视网膜病变。
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