Leber congenital amaurosis (LCA) and early‐onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10‐18 deletion.

中文翻译：

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152名巴西严重早期发作的遗传性视网膜营养不良患者队列的临床和分子发现。

莱伯先天性黑ama病（LCA）和早发性视网膜营养不良（EORD）是严重的遗传性视网膜营养不良，可导致儿童失明。它们占世界人口所有视网膜营养不良的5％，在巴西约占10％。研究了巴西样本（152名患者/ 137个家庭）的有症状和无症状的LCA / EORD的临床发现和分子基础。在该人群中，发现了15个与该表型相关的基因，发现了38个新变异，并发现了四个新的复杂等位基因。在发现的123个变体中，最常见的是CEP290：c.2991 + 1655A> G，CRB1：p.Cys948Tyr和RPGRIP1：exon10-18缺失。