Coloboma del iris, presentación de caso / Iris coloboma, case presentation

Introducción: el coloboma es un defecto congénito del sector inferior del iris o bien, una escotadura en el margen pupilar que otorga a la pupila un aspecto de cerradura. Presentación del caso: se presenta el caso de un paciente masculino de 53 años de edad con diagnóstico clínico de coloboma del iris en el cuadrante inferotemporal izquierdo. Discusión: el coloboma del iris, es hasta la actualidad una condición rara con una incidencia de 2.4-8.0/10,000 nacidos vivos. La mayoría de las causas de este tipo de coloboma es desconocida, y ocasionalmente puede producirse debido a cirugía del ojo, traumatismo del ojo, afecciones hereditarias, algunos se deben a un defecto genético específico y un pequeño número de pacientes con coloboma tiene otros problemas hereditarios del desarrollo. Conclusiones: el coloboma del iris es una entidad poco frecuente, de diagnóstico casual, que suele ser asintomática; es importante al hacer el diagnóstico, realizar un examen físico bien detallado en el paciente para descartar síndromes asociados a esta malformación congénita(AU)

Introduction: the coloboma is a birth defect of the lower sector of the iris or a neckline in the pupil margin that gives the pupil a locking appearance. Case presentation: The case of a 53-year-old male patient with clinical diagnosis of iris coloboma in the left infernotemporal quadrant is presented. Discussion: the coloboma of the iris, is to present a rare condition with an incidence of 2.4-8.0/10,000 live births. Most of the causes of this type of coloboma are unknown, and can occasionally occur due to eye surgery, eye trauma, hereditary conditions, some are due to a specific genetic defect and a small number of patients with coloboma have other hereditary developmental problems. Conclusions: iris coloboma is a rare, casually diagnosed entity that is usually asymptomatic; it is important when making the diagnosis, performing a thorough physical exam on the patient to rule out syndromes associated with this congenital malformation(EU)

Coloboma and CHARGE association in Puerto Rico.

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.