The EyePathologist - Autosomal recessive fibrosis of extraocular muscles

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Disease

Autosomal recessive fibrosis of extraocular muscles

Overview

Contributor: Elizabeth C. Engle
Autosomal recessive fibrosis of extraocular muscles (congenital fibrosis of extraocular muscle type II, CFEOM2, OMIM #602078) is one type of congenital fibrosis of extraocular muscle. This inherited congenital disorder of the extraocular muscles is characterized by bilateral ptosis and eyes fixed in exotropic position. It has an autosomal recessive mode of inheritance and results from mutations in the ARIX gene.