Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.
Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.
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DOI：
10.1016/j.ajoc.2022.101718
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发表时间：
2022-12
影响因子：
--
通讯作者：
Capone, Antonio Jr
中科院分区：
文献类型：
--
作者：
Moussa, Michael T;Scoles, Drew;Branham, Kari;Fahim, Abigail T;Capone, Antonio Jr
描述一名患有无脉络膜血症的年轻单纯性男性的临床特征、影像学表现和基因检测结果。一名 6 岁西班牙裔华裔男性因常规检查发现双眼周边视网膜色素变化而被转诊至视网膜诊所。患者无异常家族史和发育史。双眼最佳矫正视力为 20/25。光学相干断层扫描显示椭圆体和叉指区的衰减。宽视野眼底自发荧光显示双眼周围有钱币状低自发荧光。基因检测发现了一个最初被描述为意义不确定的变体（VUS）的变体。 CHM 基因中鉴定出 1775_1814del (p.Glu592Valfs*44)，分离分析后将其重新分类为致病性。该患者因 CHM 致病性变异而被诊断为无脉络膜血症。这里展示的多模态成像结果说明了诊断单纯性男性无脉络膜血症的重要线索。
To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the CHM gene, which was reclassified as pathogenic following segregation analysis. The patient was diagnosed with choroideremia due to a CHM pathogenic variant. The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.