title: Retinitis pigmentosa and allied disorders in Denmark. IV. Ophthalmic features in systemic and non-systemic cases.
abstract: We analyzed the composition of a retinitis pigmentosa (RP) sample with respect to clinical appearance. The material included 1301 affected persons derived from a national Danish survey with a high degree of completeness. The cases were grouped according to ocular signs and symptoms into typical RP, atypical RP, vitreoretinal RP, chorioretinal dystrophy, and unclassified. The relative frequency with which these groups were nosologically allocated to systemic and non-systemic retinitis pigmentosa is presented. Among 837 cases of non-systemic RP 60% had ophthalmoscopic abnormalities and visual symptoms in accordance with typical RP, 29% were characterized as atypical and 6% presented with chorioretinal dystrophy. The results of earlier epidemiological studies, sex distribution, and new diagnostic concepts based on DNA analysis are discussed.
authors.affiliation: National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Haim
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009755:Night Blindness; D016017:Odds Ratio; D015995:Prevalence; D012174:Retinitis Pigmentosa / Q000145:classification* / Q000150:complications / Q000453:epidemiology; D012189:Retrospective Studies; D017678:Sex Distribution; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology