title: Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia.
abstract: We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.
authors.affiliation: Department of Ophthalmology, University of Iowa, Iowa City.
authors.forename: B L
authors.initials: BL
authors.lastname: Lam
authors.forename: G F
authors.initials: GF
authors.lastname: Judisch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D006956:Hyperopia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000209:etiology; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014786:Vision Disorders / Q000209:etiology; D014792:Visual Acuity