翻訳と辞書
Words near each other
・ Congenital diaphragmatic hernia
・ Congenital disorder
・ Congenital disorder of glycosylation
・ Congenital disorder of glycosylation type IIc
・ Congenital disorders of amino acid metabolism
・ Congenital distal spinal muscular atrophy
・ Congenital dyserythropoietic anemia
・ Congenital dyserythropoietic anemia type I
・ Congenital dyserythropoietic anemia type II
・ Congenital dyserythropoietic anemia type III
・ Congenital dyserythropoietic anemia type IV
・ Congenital epulis
・ Congenital erosive and vesicular dermatosis
・ Congenital estrogen deficiency
・ Congenital fiber type disproportion
Congenital fibrosis of the extraocular muscles
・ Congenital fourth nerve palsy
・ Congenital generalized lipodystrophy
・ Congenital hearing loss
・ Congenital heart defect
・ Congenital Heart Surgeons' Society
・ Congenital hemolytic anemia
・ Congenital hepatic fibrosis
・ Congenital hereditary endothelial dystrophy
・ Congenital hyperinsulinism
・ Congenital hypertrophy of the lateral fold of the hallux
・ Congenital hypoplastic anemia
・ Congenital hypothyroidism
・ Congenital ichthyosiform erythroderma
・ Congenital insensitivity to pain


Dictionary Lists
翻訳と辞書 辞書検索 [ 開発暫定版 ]
スポンサード リンク

Congenital fibrosis of the extraocular muscles : ウィキペディア英語版
Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with CFEOM have varying degrees of ophthalmoplegia (an inability to move the eyes in one or more directions) and ptosis. The condition is present from birth and non-progressive, runs in families, and usually affects both eyes similarly. In the most common form, the superior recti are dysfunctional and the inferior recti, lacking proper opposition, pull the eyes down, forcing the head to be tilted upward in order to see straight ahead.
There are three types of CFEOM, numbered 1-3. CFEOM1, the most common type, is now known to be caused by one of several mutations in the KIF21A gene, while CFEOM2 is caused by mutations in the PHOX2A gene.〔Engle, E.C., Genetic Basis of Congenital Strabismus. Arch Ophthalmol. 2007;125(2):189 (article )〕
CFEOM was first named in 1956,〔Laughlin, R.C. Congenital fibrosis of the extraocular muscles; a report of six cases. Amer J Ophthalmol 41, 432-438 (1956).〕 although papers describing conditions now known or assumed to be CFEOM appear in the medical literature as early as 1840.〔Baumgarten, M. Erfahrungen uber den strabismus und die Muskeldurchschneidung am Auge in physiologischpathologischer und therapeutischer Beziehung. Monatsschr Med Augenheilkd Chir 3, 474-499 (1840).〕 Due to its rarity, it has been independently cited numerous times under many different names.〔
== References ==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Congenital fibrosis of the extraocular muscles」の詳細全文を読む



スポンサード リンク
翻訳と辞書 : 翻訳のためのインターネットリソース

Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.