Congenital fibrosis of the extraocular muscles is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with congenital fibrosis of the extraocular muscles (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, 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.
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| - Congenital fibrosis of the extraocular muscles (en)
- Fibrose congénitale des muscles oculomoteurs (fr)
- 先天性眼外肌纖維化 (zh)
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| - 先天性眼外肌纖維化是眼外肌無法控制眼球運動的症病，其通常會造成水平下20~30度的斜視、、眼瞼下垂及弱視。 其發生率為未知。 遺傳方面，其遺傳方式為體染色體顯性遺傳疾病，為第12對染色體上的突變，造成異常。 (zh)
- Congenital fibrosis of the extraocular muscles is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with congenital fibrosis of the extraocular muscles (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, 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. (en)
- La fibrose congénitale des muscles oculomoteurs (CFEOM) est une maladie génétique très rare se traduisant par un strabisme avec une paralysie des mouvements de l'œil ou ophtalmoplégie avec ou sans ptosis par atteinte des muscles oculomoteurs dépendants de la IIIe et de la IVe paire des nerfs crâniens. La limitation du regard vertical est importante (surtout le regard supérieur) et le regard horizontal est moins sévèrement atteint. La compensation de cette limitation se fait par des maintiens anormaux de la tête. La prévalence de cette pathologie est estimée à 1 cas sur 230 000 individus. (fr)
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| - Congenital fibrosis of the extraocular muscles (en)
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| - Congenital fibrosis of the extraocular muscles (en)
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| - Congenital fibrosis of the extraocular muscles is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with congenital fibrosis of the extraocular muscles (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, 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. CFEOM3 is caused by mutations in the TUBB3 gene. CFEOM was first named in 1956, although papers describing conditions now known or assumed to be CFEOM appear in the medical literature as early as 1840. Due to its rarity, it has been independently cited numerous times under many different names. (en)
- La fibrose congénitale des muscles oculomoteurs (CFEOM) est une maladie génétique très rare se traduisant par un strabisme avec une paralysie des mouvements de l'œil ou ophtalmoplégie avec ou sans ptosis par atteinte des muscles oculomoteurs dépendants de la IIIe et de la IVe paire des nerfs crâniens. La limitation du regard vertical est importante (surtout le regard supérieur) et le regard horizontal est moins sévèrement atteint. La compensation de cette limitation se fait par des maintiens anormaux de la tête. La prévalence de cette pathologie est estimée à 1 cas sur 230 000 individus. Le tableau ci-dessous résume les différents types de fibrose congénitale des muscles oculomoteurs : (fr)
- 先天性眼外肌纖維化是眼外肌無法控制眼球運動的症病，其通常會造成水平下20~30度的斜視、、眼瞼下垂及弱視。 其發生率為未知。 遺傳方面，其遺傳方式為體染色體顯性遺傳疾病，為第12對染色體上的突變，造成異常。 (zh)
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