title: Clinical symptoms at different ages in autosomal dominant retinitis pigmentosa. A family study in three generations.
abstract: A family with autosomal dominant retinitis pigmentosa in three generations was studied. The age of the patients varied from 11 to 66 years. From the youngest to the eldest member of the family, the visual acuity varied from 1.0 to 0.4, the defect in the visual fields from a relative ring scotoma to a tubular field of 5 degrees, and the rod threshold in dark adaptation from normal to an elevation of 3 log units. Color vision was normal in all of the family members. The fundus changes varied from coarseness of retinal pigment epithelium to bone spicule pigmentation with narrow vessels and pale optic nerve head. The progression of autosomal dominant retinitis pigmentosa has been reported to be milder than in the other types of retinitis pigmentosa. The clinical symptoms of the family in the present study confirm this finding.
authors.affiliation: Department of Ophthalmology, University Hospital of Kuopio, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Mäntyjärvi
authors.forename: K
authors.initials: K
authors.lastname: Tuppurainen
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000502:physiology*; D002648:Child; D003118:Color Perception; D003623:Dark Adaptation; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology*; D014792:Visual Acuity; D014794:Visual Fields