title: A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
abstract: Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.
authors.affiliation: Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Health and Medical Science, University of Auckland , Auckland , New Zealand .
authors.forename: Shaheen P
authors.initials: SP
authors.lastname: Shah
authors.forename: Fulton
authors.initials: F
authors.lastname: Wong
authors.forename: Dianne M
authors.initials: DM
authors.lastname: Sharp
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Vincent
mesh_terms: D000328:Adult; D004594:Electrophysiology; D006639:Histidine / Q000737:chemistry / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000737:chemistry / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D044465:White People
chemical_list: D006639:Histidine; D012243:Rhodopsin; D011392:Proline
keywords: Proline170histidine; retinitis pigmentosa; rhodopsin