Coloboma and CHARGE association in Puerto Rico
Jardón, J.; Izquierdo, N.J.
Boletin de la Asociacion Medica de Puerto Rico 101(2): 39-41
2009
ISSN/ISBN: 0004-4849 PMID: 19954100 Document Number: 702366
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. We conducted a non-concurrent prospective study of 13 patients with coloboma from Puerto Rico. 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. 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.
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