Konjenital Ekstraoküler Kas Fibrozisi

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive\udstrabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM\udis divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type\ud1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause\udof muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus\udand blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5