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Congenital Fibrosis of the Extraocular Muscles

Known as: Congenital External Ophthalmoplegia, Congenital fibrosis of the extraocular muscles (CFEOM), Congenital fibrosis of extraocular muscles (CFEOM) 
Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of… 
National Institutes of Health

Related topics

Related topics

5 relations
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2Fibrosis Of Extraocular Muscles, Congenital, 1Tukel syndrome

Broader (2)

FibrosisOphthalmoplegia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Congenital fibrosis of the extraocular muscles
Background: Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders… 
Review
2008
Review
2008
Congenital Fibrosis of the Extraocular Muscles
Congenital fibrosis of the extraocular muscles (CFEOM) is a strabismus syndrome characterized by non-progressive, restrictive… 
Highly Cited
2005
Highly Cited
2005
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
PURPOSE High-resolution orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of ocular motility… 
Highly Cited
2003
Highly Cited
2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder… 
Highly Cited
2001
Highly Cited
2001
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
Isolated strabismus affects 1–5% of the general population. Most forms of strabismus are multifactorial in origin; although there… 
Highly Cited
1998
Highly Cited
1998
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
The extraocular fibrosis syndromes are congenital ocular-motility disorders that arise from dysfunction of the oculomotor… 
Highly Cited
1997
Highly Cited
1997
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis… 
Highly Cited
1994
Highly Cited
1994
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
Congenital Fibrosis of the Extraocular Muscles (CFEOM) is an autosomal dominant, ocular disorder characterized by congenital… 
1984
1984
[Congenital fibrosis of the extraocular muscles].
Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles… 
1978
1978
Congenital fibrosis of the extraocular muscles.
Congenital fibrosis of the extraocular muscles is characterized by the replacement of normal contractile muscle tissue by fibrous… 
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