1. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
- Author
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Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, and Belfort R Jr
- Subjects
- Alleles, Brazil epidemiology, Eye Diseases, Hereditary diagnosis, Eye Diseases, Hereditary epidemiology, Eye Diseases, Hereditary pathology, Female, Genetic Association Studies, Genotype, Humans, Leber Congenital Amaurosis diagnosis, Leber Congenital Amaurosis epidemiology, Leber Congenital Amaurosis pathology, Male, Mutation genetics, Pedigree, Phenotype, Retinal Dystrophies diagnosis, Retinal Dystrophies epidemiology, Retinal Dystrophies pathology, Antigens, Neoplasm genetics, Cell Cycle Proteins genetics, Cytoskeletal Proteins genetics, Eye Diseases, Hereditary genetics, Eye Proteins genetics, Leber Congenital Amaurosis genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Retinal Dystrophies genetics
- 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., (© 2020 Wiley Periodicals LLC.)
- Published
- 2020
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