Coloboma and CHARGE association in Puerto Rico.
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.
Jardón
Javier
J
UPR School of Medicine, University of Puerto Rico, Rio Piedras, Puerto Rico.
Izquierdo
Natalio J
NJ
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
D006854:Hydrocortisone