Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an a...

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Bibliographic Details
Main Authors: Fernanda B. O. Porto, Evan M. Jones, Justin Branch, Zachry T. Soens, Igor Mendes Maia, Isadora F. G. Sena, Shirley A. M. Sampaio, Renata T. Simões, Rui Chen
Format: Article
Language:English
Published: MDPI AG 2017-11-01
Series:Genes
Subjects:
retina
genetics
ophthalmology
Leber congenital amaurosis
early-onset retinal dystrophy
next-generation sequencing
Online Access:https://www.mdpi.com/2073-4425/8/12/355

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