携带女性表现出一种不寻常的 X 连锁性视网膜炎劈裂表型，与致病性变异 c.266delA，p.(Tyr89LeufsTer37)在 中相关，并存在偏性 X 染色体失活。
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in , and Skewed X-Inactivation.
机构信息
Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.
出版信息
Genes (Basel). 2023 May 29;14(6):1193. doi: 10.3390/genes14061193.
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.
X 连锁性视网膜炎劈裂症（XLRS）是男性中最常见的青少年黄斑变性。与大多数其他 X 连锁性视网膜营养不良不同，携带杂合子的女性很少有报道显示出该疾病的临床特征。在此，我们描述了一位 2 岁女性婴儿的不寻常视网膜特征，该婴儿有家族史且基因检测结果与 XLRS 相符。
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