Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Maree P Flaherty, Chandra Balachandran, Robyn V. Jamieson, Elizabeth C Engle

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.

Original languageEnglish
Pages (from-to)91-5
Number of pages5
JournalOphthalmic Genetics
Volume30
Issue number2
DOIs
Publication statusPublished - Jun 2009
Externally publishedYes

Keywords

  • Blepharoptosis
  • Coloboma
  • Conjunctival Diseases
  • DNA Mutational Analysis
  • Fibrosis
  • Humans
  • Infant
  • Kinesin
  • Male
  • Mutation
  • Oculomotor Muscles
  • Ophthalmoplegia, Chronic Progressive External
  • Optic Disk
  • Case Reports
  • Journal Article
  • Research Support, N.I.H., Extramural

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