Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8 Nishi-shimbashi, Minato-ku, Tokyo, 105-8461, Japan.
Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan.
Doc Ophthalmol. 2022 Jun;144(3):227-235. doi: 10.1007/s10633-022-09874-y. Epub 2022 Jun 2.
Retinitis 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 of NRL-associated retinopathy in a three-generation Japanese family.
A 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 the NRL gene. 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.
Our 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 with NRL-associated AD-RP.
色素性视网膜炎（RP）是一组异质性遗传性视网膜疾病。NRL 相关的常染色体显性（AD）-RP 在日本人群中是一种罕见的 AD-RP 形式。本研究旨在报告一个三代日本家族中 NRL 相关视网膜病变的临床特征。
一个日本家族的 4 名患者因临床和遗传检查被转诊至日本庆应义塾大学医学院。这些患者包括一名男性先证者（41 岁）、他的两个女儿（5 岁和 6 岁）和他的母亲（71 岁）；他们接受了眼科检查，并通过全外显子组测序分析进行了基因检测，结果显示 NRL 基因外显子 2 中存在一个已知的杂合变异 [c.152C>T（p.Pro51Leu)]。眼底照相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区高自发荧光（AF），年轻患者稍低 AF，老年患者明显低 AF。光学相干断层扫描显示年轻患者的椭圆体带长度比老年患者长。Goldmann 视野计显示视野随年龄呈进行性下降。此外，全视野视网膜电图结果显示老年患者的杆和锥细胞功能无法记录，而年轻患者的杆细胞功能无法记录，但锥细胞功能正常。
我们的结果表明，视网膜结构和功能随年龄的增长而逐渐加重，视网膜变性，特别是黄斑区域，比以前报道的 NRL 相关 AD-RP 病例表现出更轻微的病变。
