Congenital Fibrosis of the Extraocular Muscles

Niyaz L., Can E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, cilt.44, sa.4, ss.312-315, 2014 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/tjo.67044
  • Dergi Adı: TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.312-315
  • Anahtar Kelimeler: Strabismus, blepharoptosis, amblyopia
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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