title: Ocular Findings in Children With 22q11.2 Deletion Syndrome.
abstract: OBJECTIVE
  To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities.
  
  
  METHODS
  Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing.
  
  
  RESULTS
  All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus.
  
  
  CONCLUSIONS
  The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].
authors.forename: Bahar
authors.initials: B
authors.lastname: Gokturk
authors.forename: Pinar
authors.initials: P
authors.lastname: Topcu-Yilmaz
authors.forename: Banu
authors.initials: B
authors.lastname: Bozkurt
authors.forename: Mahmut Selman
authors.initials: MS
authors.lastname: Yildirim
authors.forename: Sukru Nail
authors.initials: SN
authors.lastname: Guner
authors.forename: Esra Hazar
authors.initials: EH
authors.lastname: Sayar
authors.forename: Ismail
authors.initials: I
authors.lastname: Reisli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003867:Depth Perception / Q000502:physiology; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012030:Refractive Errors / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis; D012171:Retinal Vessels / Q000002:abnormalities; D014792:Visual Acuity / Q000502:physiology