Premium
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Author(s) -
Sallum Juliana Maria Ferraz,
Motta Fabiana Louise,
Arno Gavin,
Porto Fernanda Belga Ottoni,
Resende Rosane Guazi,
Belfort Rubens
Publication year - 2020
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31828
Subject(s) - dystrophy , blindness , age of onset , retinal , medicine , genetics , allele , pediatrics , population , biology , ophthalmology , pathology , gene , disease , optometry , environmental health
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.