Evaluation of patients with obvious or suspected degenerative and dystrophic disorders of the retina, pigment epithelium and choroid. Experience from a Swedish referral center.

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.