Coloboma and CHARGE association in Puerto Rico

Bol Asoc Med P R. 2009 Apr-Jun;101(2):39-41.


Introduction: 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.

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Choanal Atresia / epidemiology
  • Coloboma / epidemiology*
  • Cornea / abnormalities
  • Ear / abnormalities
  • Ectopia Lentis / etiology
  • Female
  • Glaucoma / etiology
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Hydrocortisone / deficiency
  • Hypothyroidism / etiology
  • Male
  • Middle Aged
  • Prospective Studies
  • Puerto Rico / epidemiology
  • Syndrome
  • Xerophthalmia / etiology


  • Hydrocortisone