Forsius-Eriksson Syndrome
Forsius-Eriksson Syndrome (Aland Disease)
General: Associated with the natives of the Aland Islands; sex-linked inheritance; consanguinity versus mutant gene; affects males only; it has been considered a variety of incomplete congenital stationary night blindness.
Ocular: Microphthalmos; irregular latent nystagmus; myopia; astigmatism; dyschromatopsia; tapetoretinal degeneration; primary foveal hypoplasia or dysplasia; nystagmus.
Clinical: Prematurity; impaired hearing; mental retardation; epilepsy.
Forsius H, Eriksson AW, Ein Neues Augensyndrom mit X-chromosomaler Transmission. Eine Sippe mit Fundusal-binismus, Foveahypoplasie, Nystagmus, Myopic, Astigmatismus und Dyschromatopsie. Klin Monatsbl Augenheilkd 1964; 144:447.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
Vliet AGM, et al. Nystagmographical studies in Aland eye disease. Acta Ophthalmol 1973; 51:782.
Weleber RG, et al. Aland Island disease (Forsius-Eriksson syndrome) associated with contiguous gene syndrome at Xp21: similarity to incomplete congenital stationary night blindness. Arch Ophthalmol 1989; 107:1170.
General: Associated with the natives of the Aland Islands; sex-linked inheritance; consanguinity versus mutant gene; affects males only; it has been considered a variety of incomplete congenital stationary night blindness.
Ocular: Microphthalmos; irregular latent nystagmus; myopia; astigmatism; dyschromatopsia; tapetoretinal degeneration; primary foveal hypoplasia or dysplasia; nystagmus.
Clinical: Prematurity; impaired hearing; mental retardation; epilepsy.
Forsius H, Eriksson AW, Ein Neues Augensyndrom mit X-chromosomaler Transmission. Eine Sippe mit Fundusal-binismus, Foveahypoplasie, Nystagmus, Myopic, Astigmatismus und Dyschromatopsie. Klin Monatsbl Augenheilkd 1964; 144:447.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
Vliet AGM, et al. Nystagmographical studies in Aland eye disease. Acta Ophthalmol 1973; 51:782.
Weleber RG, et al. Aland Island disease (Forsius-Eriksson syndrome) associated with contiguous gene syndrome at Xp21: similarity to incomplete congenital stationary night blindness. Arch Ophthalmol 1989; 107:1170.
0 Comments:
Post a Comment
Links to this post:
Create a Link
<< Home