title: Evaluation of patients with obvious or suspected degenerative and dystrophic disorders of the retina, pigment epithelium and choroid. Experience from a Swedish referral center.
abstract: Between August 1, 1982, and December 31, 1988, 487 patients with clinically established or suspected diagnosis of a hereditary degenerative or dystrophic disorder of the ocular fundus or of a disorder of the optic pathways were evaluated with an extensive set of clinical and electrophysiological tests, 67% of the patients were referred from other eye departments. In order of magnitude the most frequently encountered diagnoses were: 1) 'functional' disturbances (18%), 2) disorders of the optic nerve (9%), 3) retinitis pigmentosa (8%), 4), 5) and 6) progressive cone dystrophy, disorders of the central optic pathways, and fundus flavimaculatus/Stargardt's disease (5% each), and 7) choriocapillaris atrophy (4%). Choriocapillaris atrophy affected older patients than retinitis pigmentosa (P less than 0.001). A male preponderance was observed for juvenile retinoschisis (P less than 0.005) and congenital stationary night blindness (P less than 0.05), and a female dominance in the groups of patients with 'functional' symptoms (P less than 0.01). A specific diagnosis was established in 469 patients. After exclusion of 16 patients referred because of a known hereditary disposition, 196 (43%) of the remaining 453 patients were referred under the same diagnosis as our final diagnosis, 153 (34%) under a different diagnosis and 104 (23%) without any clear diagnosis. Obviously, there is a need for regional centers specialized in these disorders.
authors.affiliation: Department of Ophthalmology, University of Linköping, Sweden.
authors.forename: K O
authors.initials: KO
authors.lastname: Skoog
authors.forename: O
authors.initials: O
authors.lastname: Textorius
authors.forename: S E
authors.initials: SE
authors.lastname: Nilsson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015862:Choroid Diseases / Q000145:classification / Q000175:diagnosis*; D003119:Color Perception Tests; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010857:Pigment Epithelium of Eye; D012162:Retinal Degeneration / Q000175:diagnosis*; D012164:Retinal Diseases / Q000145:classification / Q000175:diagnosis*; D012737:Sex Factors; D014792:Visual Acuity; D014794:Visual Fields