Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement

Common Name(s)

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 ({135700}). CFEOM2 ({602078}) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by {9:Yamada et al., 2004} and {4:Heidary et al., 2008}). {8:Yamada et al. (2003)} concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3 The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B ({135700}), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C ({609384}), which maps to chromosome 13q.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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