title: Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family.
abstract: A reinvestigation of a Danish family with X-linked inherited congenital nystagmus through 6 generations revealed a congenital stationary retinal dysfunction syndrome with characteristics of both incomplete congenital stationary night blindness and Aland Eye Disease. In spite of rather uniform electrophysiological findings in our patients, this retinal disorder which affects both cones and rods demonstrated considerable intrafamilial diversity with respect to visual acuity, nystagmus, refractive state and fundus pigmentation.
authors.affiliation: National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: S E
authors.initials: SE
authors.lastname: Simonsen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003623:Dark Adaptation; D003718:Denmark; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000150:complications / Q000151:congenital / Q000235:genetics; D009755:Night Blindness / Q000150:complications / Q000151:congenital / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000150:complications / Q000151:congenital / Q000235:genetics; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology; D010858:Pigmentation; D012164:Retinal Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014792:Visual Acuity; D014960:X Chromosome