Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions
DC Chung, EI Traboulsi - Journal of American Association for Pediatric …, 2009 - Elsevier
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies,
characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15
causative genes have been identified that account for the heterogeneous presentation and
clinical course. Knowledge of key aspects of phenotype and clinical course can contribute to
the determination of a precise genetic etiology using genetic testing. Gene-based therapies
are emerging, and knowledge of a patient's genotype is essential. A review of clinical …
characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15
causative genes have been identified that account for the heterogeneous presentation and
clinical course. Knowledge of key aspects of phenotype and clinical course can contribute to
the determination of a precise genetic etiology using genetic testing. Gene-based therapies
are emerging, and knowledge of a patient's genotype is essential. A review of clinical …