Literature DB >> 2392903

Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family.

T Rosenberg1, M Schwartz, S E Simonsen.   

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.

Entities:  

Mesh：

Year:  1990        PMID： 2392903     DOI： 10.1111/j.1755-3768.1990.tb01923.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN： 0001-639X


  5 in total

1.  Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

Authors:  N R Hawksworth; S Headland; P Good; N S Thomas; A Clarke
Journal:  Br J Ophthalmol       Date:  1995-05       Impact factor: 4.638

2.  Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Authors:  I A Glass; P Good; M P Coleman; P Fullwood; M G Giles; S Lindsay; A H Nemeth; K E Davies; H A Willshaw; A Fielder
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

3.  Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Authors:  Marianne N Hove; Kevser Z Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-12-01       Impact factor: 4.799

4.  Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.

Authors:  Ting-Feng Lin; Christina Gerth-Kahlert; James V M Hanson; Dominik Straumann; Melody Ying-Yu Huang
Journal:  Front Neurol       Date:  2018-03-14       Impact factor: 4.003

5.  A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Authors:  Usman Mahmood; Cécile Méjécase; Syed M A Ali; Mariya Moosajee; Igor Kozak
Journal:  Genes (Basel)       Date:  2021-01-27       Impact factor: 4.096
  5 in total

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