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Charge syndrome – Amblyopia and coloboma: a case report

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Charge sýndrome is caused by a genetic disorder, with different associated anomalies is a recognizable pattern of congenital malformations. Coloboma, one of the developmental anomalies, is characterized by a poor closure of the embryonary fissure, which can affect the eye different structures. The association with systemic pathology makes the ophthalmologic diagnosis essential for patients' multidisciplinary orientation. From an ophthalmological point of view, patients may present with coloboma associated with other changes, namely strabismus, and nystagmus, and with amblyopia and variable visual acuity.

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Orthoptics Charge syndrome Amblyopia Coloboma Genetic disorder

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Poças I. Lino PM. Charge syndrome – Amblyopia and coloboma: a case report. In: 40th Meeting of the European Strabismological Association, Helsinki (Finland), June 5-8, 2019.

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