Abstract
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.
Keywords:
Leber congenital amaurosis (LCA); causal genes; childhood blindness; early-onset retinal dystrophy (EORD); genotype-phenotype; pathogenic variants.
© 2020 Wiley Periodicals LLC.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Antigens, Neoplasm / genetics*
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Brazil / epidemiology
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Cell Cycle Proteins / genetics*
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Cytoskeletal Proteins / genetics*
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Eye Diseases, Hereditary / diagnosis
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Eye Diseases, Hereditary / epidemiology
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Eye Diseases, Hereditary / genetics*
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Eye Diseases, Hereditary / pathology
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Eye Proteins / genetics*
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Female
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Genetic Association Studies
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Genotype
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Humans
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Leber Congenital Amaurosis / diagnosis
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Leber Congenital Amaurosis / epidemiology
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Leber Congenital Amaurosis / genetics*
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Leber Congenital Amaurosis / pathology
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Male
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Membrane Proteins / genetics*
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Mutation / genetics
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Nerve Tissue Proteins / genetics*
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Pedigree
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Phenotype
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Retinal Dystrophies / diagnosis
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Retinal Dystrophies / epidemiology
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Retinal Dystrophies / genetics*
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Retinal Dystrophies / pathology
Substances
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Antigens, Neoplasm
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CRB1 protein, human
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Cell Cycle Proteins
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Cep290 protein, human
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Cytoskeletal Proteins
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Eye Proteins
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Membrane Proteins
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Nerve Tissue Proteins
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RPGRIP1 protein, human
Supplementary concepts
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Retinal Dystrophy, Early Onset Severe