两名患有新型杂合突变患者的下方扇形脉络膜视网膜病变
Inferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
作者信息
Mishra Amit V, Martens Rosanna, Aizouki Carolin, Radziwon Alina, MacDonald Ian M
机构信息
Alberta Retina Consultants.
Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada.
出版信息
Ophthalmic Genet. 2025 Apr;46(2):207-210. doi: 10.1080/13816810.2025.2450456. Epub 2025 Jan 13.
BACKGROUND
Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
CASES
We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations. Both patients have relatively good central vision similar inferior lacunae of retinal atrophy with relative sparing of the foveal center with.
CONCLUSION
Two cases with classic features of MCLMR have foveal sparing that expands the associated spectrum of ocular findings.
背景
驱动蛋白家族基因中的致病性变异可导致MCLMR和FEVR。在MCLMR中，大多数病例存在脉络膜视网膜萎缩，这可能是一个有用的诊断标志。
病例
我们报告了两名患有脉络膜视网膜萎缩和小头畸形且携带新突变的患者病例。两名患者的中心视力相对较好，视网膜萎缩有类似的下方缺损，黄斑中心相对 spared with。
结论
两例具有MCLMR典型特征的病例出现黄斑 sparing，扩大了相关眼部表现的范围。
注
原文中“relative sparing of the foveal center with”表述似乎不太完整准确，可能影响译文的精准度。
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