Åland Eye Disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family
- 27 May 2009
- journal article
- research article
- Published by Wiley in Acta Ophthalmologica
- Vol. 68 (3) , 281-291
- https://doi.org/10.1111/j.1755-3768.1990.tb01923.x
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.Keywords
This publication has 16 references indexed in Scilit:
- Visual Sensory Disorders in Congenital NystagmusOphthalmology, 1989
- X‐linked myopia in danish familyActa Ophthalmologica, 1988
- PEDIGREE‐PLOT: a computer program for plotting pedigreesClinical Genetics, 1987
- Congenital Stationary Night Blindness Presenting as Leber's Congenital AmaurosisArchives of Ophthalmology (1950), 1987
- Congenital Stationary Night Blindness With Negative ElectroretinogramArchives of Ophthalmology (1950), 1986
- Åland eye disease: no albino misroutingClinical Genetics, 1985
- Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinismClinical Genetics, 1980
- AlbinismOphthalmologica, 1979
- Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome).Journal of Medical Genetics, 1970
- Beitrag zur Analyse des menschlichen ElektroretinogrammsOphthalmologica, 1952