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Ocular coloboma: associated ocular and systemics abnormalities

PURPOSE: To verify and compare with the literature the profile of patients with ocular coloboma, and also to verify visual acuity, ocular and systemic abnormalities. METHODS: Retrospective analysis of 18 patients with a definite diagnosis of ocular coloboma at the Low Vision Department of the São Geraldo Eye Hospital of the Federal University of Minas Gerais. Patients underwent a complete ophthalmologic evaluation: sex, age, race, family history, prenatal and birth history, complete or incomplete coloboma, location, microphthalmos or anophthalmos, other ocular and systemic abnormalities, and visual acuity. RESULTS: 10 (55.6%) patients were women. The age was from 4 to 57, and the mean was 9.5 years. Only three (16.7%) patients had a family history of coloboma. All patients had negative prenatal and birth history. The coloboma was bilateral in 100% of the patients, and associated with microphthalmos in 6 (33.3%) cases. The coloboma was considered typical in 14 (77.8%) patients, with retinochoroidal coloboma being the most frequent, 16 (88.9%) patients. 50% of the patients had coloboma as an isolated ocular anomaly, while the other 50% presented association with systemic anomalies. In 14 (77.8%) patients other ocular abnormalities were found. CONCLUSION: The complete ophthalmologic examination is extremely important for both the diagnosis and prognosis of the patients with coloboma, since the coloboma may be associated with important low visual and also systemic anomalies and syndromes.

Coloboma; Vision, low; Microphthalmos


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