To evaluate ocular and retinal features of -associated early onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA) for age-related changes. Retrospective cohort study. Sixteen pediatric patients with biallelic EOSRD/LCA who had been followed for up to 18 years were reviewed. Results of comprehensive ophthalmic examinations—including visual acuity, refractive error, dark-adapted visual threshold, Goldmann perimetry, and macular optical coherence tomography (OCT)—were analyzed for significant age-related changes using mixed-effects models. Visual acuity dark-adapted visual sensitivity, and area of seeing visual field (all subnormal from the earliest ages recorded) declined with increasing age. Hyperopia was stable through childhood and adolescence. In EOSRD/LCA, OCT extrafoveal inner and outer laminar thicknesses exceeded those in controls but varied little with age, and foveal metrics (depth, breadth, thickness at rim) differed significantly from those in controls, but variations in foveal metrics were not associated with declines in acuity. From the youngest ages, retinal and visual function is significantly subnormal and becomes progressively compromized. A goal of future therapies should be intervention at young ages, when there is more function to be rescued.

中文翻译：

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患有 CRB1 相关 EOSRD/LCA 的眼睛特征：与年龄相关的变化

评估与年龄相关的早发性严重视网膜营养不良/莱伯先天性黑蒙 (EOSRD/LCA) 相关的眼部和视网膜特征。回顾性队列研究。对 16 名患有双等位基因 EOSRD/LCA 的儿科患者进行了长达 18 年的随访。使用混合效应模型分析综合眼科检查的结果，包括视力、屈光不正、暗适应视觉阈值、Goldmann 视野检查和黄斑光学相干断层扫描 (OCT)，以发现与年龄相关的显着变化。视力、暗适应视觉敏感度和视野面积（从记录的最早年龄开始均低于正常）随着年龄的增长而下降。远视在童年和青春期都是稳定的。在 EOSRD/LCA 中，OCT 中心凹外内层和外层厚度超过对照组，但随年龄变化很小，并且中心凹指标（深度、宽度、边缘厚度）与对照组显着不同，但中心凹指标的变化与年龄无关。敏锐度下降。从最小的年龄开始，视网膜和视觉功能就明显低于正常，并逐渐受损。未来治疗的目标应该是在年轻时进行干预，因为此时有更多的功能需要挽救。