title: Coloboma and CHARGE association in Puerto Rico.
abstract: BACKGROUND
  Previous studies have reported that patients with the CHARGE association have congenital anomalies including: Coloboma; heart defects; choanal atresia, retarded growth and development; genital hypoplasia; and ear anomalies. Ocular findings in patients with the association include: poor visual acuity; anisometropia; myopic astigmatism; strabismus; microcornea; cataracts; staphyloma; and reduced stereopsis.
  
  
  METHODS
  We conducted a non-concurrent prospective study of 13 patients with coloboma from Puerto Rico.
  
  
  RESULTS
  Seven patients out of the 13 patients (53.8%) had the CHARGE association. Age ranged from 10 to 84 (mean = 38 years). Ocular findings in all the patients with coloboma include: nystagmus; strabismus; poor visual acuity; refractive errors; microcornea; cataracts; glaucoma; and dry eyes. Patients in our study had systemic findings such as: heart defects; ear anomalies; and endocrine problems.
  
  
  CONCLUSIONS
  To our knowledge this is the first case series of patients with Coloboma and the CHARGE association reported in Puerto Rico and the Caribbean basin.
authors: UPR School of Medicine, University of Puerto Rico, Rio Piedras, Puerto Rico.
authors: Javier
authors: J
authors: Jardón
authors: Natalio J
authors: NJ
authors: Izquierdo
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002754:Choanal Atresia / Q000453:epidemiology; D003103:Coloboma / Q000453:epidemiology*; D003315:Cornea / Q000002:abnormalities; D004423:Ear / Q000002:abnormalities; D004479:Ectopia Lentis / Q000209:etiology; D005260:Female; D005901:Glaucoma / Q000209:etiology; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency; D007037:Hypothyroidism / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D011647:Puerto Rico / Q000453:epidemiology; D013577:Syndrome; D014985:Xerophthalmia / Q000209:etiology
chemical_list: D006854:Hydrocortisone