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목적 : The authors report on two cases of bilateral chorioretinal colobomas with ocular anomalies in CHARGE syndrome.
방법 : A female (36+5 weeks gestation) demonstrated a left microphthalmia (9.7mm) with of both iris and chorioretinal colobomas. Systemic evaluation revealed multiple anomalies: esophageal atresia with imperforated anus, congenital heart defects and right mild hydronephrosis. A male (39+5 weeks gestation) demonstrated an irregular left pupil and ptosis with both large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear, congenital heart defects, left renal atresia, seizure disorder and micropenis.
결과 : In the current cases, the patients’ colobomas played a key role the diagnosis as CHARGE syndrome. The patients were initially consulted to ophthalmology with abnormal appearance of their eyes. Detailed ocular examination revealed bilateral chorioretinal colobomas and other abnormal appearances. Since such a dysmorphic face and bilateral coloboma is frequently accompanied by other congenital deformities, the authors asked for a full systemic examination in order to determine other multi-organ anomalies. These typical features were sufficient for the clinical diagnosis of CHARGE syndrome.
결론 : In conclusion, ophthalmologists should be aware of multisystem congenital anomalies associated with any ocular problems, including colobomas, and consult in order to obtain a multidisciplinary approach. Furthermore we need to alarm the patients’ and pediatrics about life threatening prognosis.
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