title: A novel mutation in the Norrie disease gene.
abstract: Norrie disease is an X-linked recessive disorder characterized by congenital blindness and in some cases mental retardation and deafness.(1) The variability of signs among patients often complicates diagnosis. Signs such as an ocular pseudoglioma, progressive deafness, and mental disturbance are considered classic features.(2) Only one third of patients with Norrie disease have sensorineural deafness, and approximately one half of the affected individuals exhibit mental retardation, often with psychotic features.(3) Histologic analysis has suggested that retinal dysgenesis occurs early in eye development and involves cells in the inner wall of the optic cup.(4) The gene associated with Norrie disease was identified in 1992. (5,6) We report a novel mutation identified in a patient in whom Norrie disease was diagnosed.
authors.affiliation: Childrens Hospital Los Angeles, Division of Ophthalmology, Research Institute, University of Southern California, Los Angeles, California, USA.
authors.forename: S
authors.initials: S
authors.lastname: Ott
authors.forename: R J
authors.initials: RJ
authors.lastname: Patel
authors.forename: B
authors.initials: B
authors.lastname: Appukuttan
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: J T
authors.initials: JT
authors.lastname: Stout
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002845:Chromatography; D003062:Codon / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014176:Protein Biosynthesis; D013577:Syndrome
chemical_list: D003062:Codon