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Åland Eye Disease (Forsius‐Eriksson‐Miyake syndrome) with probability established in a Danish family
Author(s) -
Rosenberg Thomas,
Schwartz Marianne,
Simonsen Svend Erik
Publication year - 1990
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1990.tb01923.x
Subject(s) - danish , medicine , disease , optometry , ophthalmology , linguistics , philosophy
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 Åland 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.