Abstract
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 accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry. We identified 42 unique variants and were able to assign a molecular diagnosis to 30/43 (70%) Brazilian patients. Among these, 30 patients were initially diagnosed with LCA or a form of early-onset retinal dystrophy, 17 patients harbored mutations in LCA-associated genes, while 13 patients had mutations in genes that were reported to cause other diseases involving the retina.
Highlights
Inherited retinal dystrophies are a large heterogeneous group of diseases that are characterized by a degeneration of the light sensitive photoreceptor cells that are found in the retina
In comparison to the European population in which the four most frequently mutated genes were CEP290 (15%), GUCY2D (11.7%), CRB1 (9.9%), and IMPDH1 (8.3%) In our study, we found our Brazilian cohort to carry more variants in CRB1 (11% vs. 9.9%) and RPE65 (11% vs. 6%)
We report the mutation screening of 43 Leber congenital amaurosis (LCA) families, the first Brazilian LCA cohort so far to our knowledge
Summary
Inherited retinal dystrophies are a large heterogeneous group of diseases that are characterized by a degeneration of the light sensitive photoreceptor cells that are found in the retina. Some disorders lead to damage in both the rod and cone photoreceptor cells, leading to a complete loss of vision while others cause the specific loss of central or peripheral vision Leber congenital amaurosis (LCA), a primarily autosomal recessive disease, which is considered to be the most common cause of childhood blindness that affects both rod and cone photoreceptors [1]. Genes 2017, 8, 355 electroretinogram (ERG) [2] Despite these defined features, the clinical phenotype and genetic cause of LCA largely overlaps with that of other retinal dystrophies, which creates challenges in providing patients with a definitive clinical and molecular diagnosis [1,3]. While there exists no effective cure for retinal dystrophies, currently growing gene therapy clinical trials will potentially offer a remedy for inherited retinal disease patients [12,13]
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