title: Novel RDH12 sequence variations in Leber congenital amaurosis.
abstract: Leber congenital amaurosis (LCA) designates a severe congenital retinal dystrophy generally inherited in an autosomal-recessive manner and accounting for 5% of inherited retinopathies. Its main clinical features are severe visual loss, sensory nystagmus, amaurotic pupils, and unrecordable electroretinographic response. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined. We report 2 patients with a clinical phenotype of LCA associated with novel mutations of the RDH12 gene.
authors.affiliation: Department of Oto-Neuro-Ophthalmological Surgical Sciences, Eye Clinic, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.forename: Roberto
authors.initials: R
authors.lastname: Caputo
authors.forename: Ilaria
authors.initials: I
authors.lastname: Passerini
authors.forename: Giacomo Maria
authors.initials: GM
authors.lastname: Bacci
authors.forename: Ugo
authors.initials: U
authors.lastname: Menchini
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D000429:Alcohol Oxidoreductases; C489649:RDH12 protein, human