Retinitis punctata albescens (RPA, OMIM#136880) is an autosomal recessive hereditary disease characterized by subretinal punctate yellow–white deposits, progressive night blindness, and visual field reduction. This disease was first described by Mooren in 1882 and named by Lauber in 1910. RPA has an incidence of 1/800,000 people worldwide, and mutations at retinaldehyde-binding protein 1 (RLBP1) gene were reported only in about 1% of patients affected by autosomal recessive forms [1]. RPA can also be caused by mutations in Rhodopsin (RHO), Retinol Dehydrogenase 5 (RDH5), Peripherin 2 (PRPH2), and Lecithin Retinol Acyltransferase (LRAT) genes. However, different mutations in RLBP1 gene can lead to multiple phenotypes as fundus albipunctatus (FA), Newfoundland rod-cone dystrophy (NFRCD) and Bothnia retinal dystrophy [2]. In this study, we report a consanguineous family with RPA (Fig. 1a). And the cases harboring biallelic mutations in RLBP1 (Fig. 1b). Both the patients of this family were referred to our hospital for night blindness. They had typical RPA characteristics. Best corrected visual acuity was decreased, accompanied by red and green weakness. Fundus evaluation showed bilateral pigment epithelial changes and numerous yellow–white punctate deposits at the level of the retinal pigment epithelium around vascular arcades, without central macular involvement (Fig. 2a). Visual field measurements showed peripheral visual field defect (Fig. 2d). The electroretinogram measurements showed significantly decreased responses. The spectral-domain optical coherence tomography showed that the ellipsoid zone is rough and fractured (Fig. 2b). Fundus fluorescein angiography showed retinitis pigmentosa-like changes in the middle and peripheral

中文翻译：

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具有视黄醛结合蛋白 1 双等位基因突变的视网膜点状白斑家族

白斑性视网膜炎（RPA，OMIM#136880）是一种常染色体隐性遗传病，其特征是视网膜下点状黄白色沉积物、进行性夜盲和视野缩小。这种疾病于 1882 年由 Mooreen 首次描述，并于 1910 年由 Lauber 命名。 RPA 在全球的发病率为 1/800,000，而视黄醛结合蛋白 1 (RLBP1) 基因的突变仅在约 1% 的受其影响的患者中报告常染色体隐性形式 [1]。RPA 也可能由视紫质 (RHO)、视黄醇脱氢酶 5 (RDH5)、外周蛋白 2 (PRPH2) 和卵磷脂视黄醇酰基转移酶 (LRAT) 基因的突变引起。然而，RLBP1 基因的不同突变可导致多种表型，如白点眼底 (FA)、纽芬兰视杆细胞营养不良 (NFRCD) 和波氏视网膜营养不良 [2]。在这项研究中，我们报告了一个有 RPA 的近亲家庭（图 1a）。以及在 RLBP1 中含有双等位基因突变的病例（图 1b）。该家庭的两名患者均因夜盲症被转诊至我院。他们具有典型的 RPA 特征。最佳矫正视力下降，伴有红、绿弱视。眼底评估显示双侧色素上皮改变和血管弓周围视网膜色素上皮水平的许多黄白色点状沉积物，没有中央黄斑受累（图2a）。视野测量显示周边视野缺损（图 2d）。视网膜电图测量显示反应显着降低。谱域光学相干断层扫描显示椭球区粗糙且破碎（图2b）。