Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
复制标题
DOI：
10.1007/s10633-022-09874-y
复制
发表时间：
2022-06
影响因子：
1.4
通讯作者：
Kei Mizobuchi;Takaaki Hayashi;T. Matsuura;T. Nakano
中科院分区：
文献类型：
--
作者：
Kei Mizobuchi;Takaaki Hayashi;T. Matsuura;T. Nakano
目的色素性视网膜炎 (RP) 是一组异质性遗传性视网膜疾病。NRL 相关常染色体显性 (AD)-RP 是日本人群中一种罕见的 AD-RP 形式。本研究旨在报告一个三代日本家庭中 NRL 相关视网膜病变的临床特征。病例介绍来自一个日本家庭的总共 4 名患者被转诊至慈惠大学医学院进行临床和基因检查。这些患者包括一名男性先证者（41 岁）、他的女儿（5 岁和 6 岁）和他的母亲（71 岁）；他们接受了眼科检查，并使用全外显子组测序分析进行了基因检测，揭示了NRL基因外显子2中的已知杂合变异[c.152C > T (p.Pro51Leu)]。眼底照片显示视网膜变性以年龄依赖性方式扩展到黄斑和周边视网膜。眼底自发荧光成像显示黄斑内自发荧光（AF）过度，年轻患者有轻微低AF，老年患者有明显低AF。光学相干断层扫描显示，年轻患者的椭球区长度往往比老年患者更长。戈德曼视野检查显示视野随着年龄的增长而下降。此外，全视野视网膜电图检查结果显示，老年患者不可记录的视杆细胞和视锥细胞功能，以及年轻患者不可记录的视杆细胞功能和保留的视锥细胞功能。结论我们的结果表明，视网膜结构和功能以年龄依赖性方式恶化，视网膜变性，特别是黄斑区，与之前的NRL相关AD-RP病例相比，显示出更轻微的结果。
PurposeRetinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders.NRL-associated autosomal dominant (AD)-RP is a rare form of AD-RP in the Japanese population. This study aimed to report a clinical characterization ofNRL-associated retinopathy in a three-generation Japanese family.Case presentationA total of 4 patients from a Japanese family were referred to The Jikei University School of Medicine for clinical and genetic examination. The patients included a male proband (41 years old), his daughters (5 and 6 years old), and his mother (71 years old); they underwent ophthalmic examinations, and genetic testing was performed using whole exome sequencing analysis, revealing a known variant [c.152C > T (p.Pro51Leu)] heterozygously in exon 2 of theNRLgene. Fundus photograph showed that retinal degeneration expanded to the macular and peripheral retina in an age-dependent manner. Fundus autofluorescence imaging showed hyper-autofluorescence (AF) within the macular with slightly hypo-AF in younger patients and obvious hypo-AF in older patients. Optical coherence tomography showed that the length of the ellipsoid zone tended to be longer in younger patients than in older patients. Goldmann perimetry showed an age-dependent decrease in the visual field. Furthermore, full-field electroretinographic findings revealed non-recordable rod and cone function in older patients and non-recordable rod function with preserved cone function in younger patients.ConclusionsOur results indicated that retinal construction and function were aggravated in an age-dependent manner, and retinal degeneration, especially in the macular region, revealed milder findings than in previous cases withNRL-associated AD-RP.