Article
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Ophthalmology - 1 Jan 2014
Corton Marta, Avila-Fernandez Almudena, Vallespín Elena, López-Molina María Isabel, Almoguera Berta, Martín-Garrido Esther, Tatu Sorina D, Khan M Imran, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Brión María, García-Sandoval Blanca, Cremers Frans P M, Carracedo Angel, Ayuso Carmen
Abstract excerpt
OBJECTIVE: We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A cohort of 217 unrelated Spanish families affected by autosomal recessive or isolated retinal dystrophy, that is, 79 families with LCA and 138 families with early-onset retinitis pigmentosa (EORP)....
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