To present the clinical characteristics, retinal features, natural history, and genetics of associated early-onset severe retinal dystrophy (EOSRD)/Leber congenital amaurosis (LCA). Retrospective case series. Review of clinical notes, multimodal retinal imaging, and molecular diagnosis of 18 patients (17 families) with EOSRD/LCA and disease-causing variants in The mean age of visual symptoms onset was 0.87 ± 1 year (birth to 3 years), and the mean age at baseline visit was 11.4 ± 10.2 years (1-39 years). At the baseline visit, 44% of patients were legally blind (range, 2-39 years), and there was no significant association found between age and best-corrected visual acuity (BCVA) in cross-sectional analysis. Retinal evaluation showed an abolished electroretinogram or a cone-rod dystrophy pattern, no or minimal pigment deposits, a hyperautofluorescent ring at the posterior pole, and a largely preserved central macular architecture, with retained outer nuclear layer and ellipsoid zone island into adulthood. Eleven variants (48%) were previously unreported, and 13 families (76%) had a double-null (DN) genotype. Twelve patients (67%) had follow-up assessments over a 15.7 ± 9.5-year period. The rate of BCVA decline was 0.02 logarithm of the minimum angle of resolution (1 letter)/year. EOSRD/LCA often presents at birth or early infancy, with nystagmus, decreased visual acuity, hyperopia, and photophobia. Patients with a DN genotype may develop symptoms earlier and have worse vision. Multimodal imaging may show a hyperautofluorescent posterior pole ring and relatively preserved central macular architecture, suggesting that the condition is a promising candidate for gene supplementation.

中文翻译：

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RPGRIP1 相关 Leber 先天性黑蒙/早发性严重视网膜营养不良的临床、眼科和遗传特征


介绍相关早发性严重视网膜营养不良 (EOSRD)/莱伯先天性黑蒙 (LCA) 的临床特征、视网膜特征、自然史和遗传学。回顾性案例系列。对 18 名患有 EOSRD/LCA 和致病变异的患者（17 个家庭）的临床记录、多模态视网膜成像和分子诊断进行回顾。视觉症状发作的平均年龄为 0.87 ± 1 岁（出生至 3 岁），并且基线访视时的平均年龄为 11.4 ± 10.2 岁（1-39 岁）。在基线访视时，44% 的患者在法律上失明（范围为 2-39 岁），并且横断面分析中未发现年龄和最佳矫正视力 (BCVA) 之间存在显着关联。视网膜评估显示视网膜电图消失或锥杆营养不良模式，没有或很少有色素沉积，后极有高自体荧光环，中央黄斑结构基本保留，外核层和椭圆体区岛保留到成年期。 11 个变异 (48%) 以前未报告，13 个家族 (76%) 具有双无效 (DN) 基因型。 12 名患者 (67%) 进行了 15.7 ± 9.5 年的随访评估。 BCVA下降率为0.02最小分辨角度（1个字母）的对数/年。 EOSRD/LCA 通常出现在出生或婴儿早期，伴有眼球震颤、视力下降、远视和畏光。具有 DN 基因型的患者可能会更早出现症状并且视力较差。多模态成像可能显示高自发荧光后极环和相对保存的中央黄斑结构，表明该病症是基因补充的有希望的候选者。