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Fibrosis Of Extraocular Muscles, Congenital, 1

Known as: Blepharoptosis with Absent Eye Movements, OPHTHALMOPLEGIA, CONGENITAL, CFEOM1 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal dominant inheritanceCongenital Fibrosis of the Extraocular MusclesFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)Secondary Esotropia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes… 
2012
2012
[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis].
OBJECTIVE To clinically characterize a collected family of congenital fibrosis of extraocular muscles associated with naso… 
Review
2011
Review
2011
The Optic Nerve Head in Congenital Fibrosis of the Extraocular Muscles
Objective: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles… 
2011
2011
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
OBJECTIVE To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I(CFEOM1) in a… 
2010
2010
Is there a perioperative circulatory side effect of intracameral epinephrine in hypertensive patients undergoing phacoemulsification?
161 of cranial nerve III and corresponding midbrain motor neurons as well as profound atrophy of levator and superior rectus… 
2008
2008
Congential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula
Purpose: To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital… 
2005
2005
[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].
OBJECTIVE To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles and to identify… 
2004
2004
Mutations in KIF21A are responsible for CFEOM1 worldwide
The classification of syndromes with congenital limitation of eye movements from cranial nerve dysgenesis continues to evolve… 
2003
2003
CFEOM1, the Classic Familial Form of Congenital Fibrosis of the Extraocular Muscles: Refinement of the Disease Locus and Analysis of Candidate Genes
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