CHARGE syndrome is commonly associated with which ocular finding?

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Multiple Choice

CHARGE syndrome is commonly associated with which ocular finding?

Explanation:
Coloboma is the hallmark ocular finding in CHARGE syndrome. It arises from failure of the embryonic optic fissure to close during early eye development, leading to gaps that can affect the iris, retina, choroid, or optic nerve. This results in characteristic defects such as a keyhole-shaped pupil when the iris is involved, or more extensive gaps if other structures are affected. The association is so strong that Coloboma is literally highlighted in the condition’s name. Other listed ocular findings—cataract, aniridia, and retinitis pigmentosa—are not typical features of CHARGE and do not reflect its common ocular presentation.

Coloboma is the hallmark ocular finding in CHARGE syndrome. It arises from failure of the embryonic optic fissure to close during early eye development, leading to gaps that can affect the iris, retina, choroid, or optic nerve. This results in characteristic defects such as a keyhole-shaped pupil when the iris is involved, or more extensive gaps if other structures are affected. The association is so strong that Coloboma is literally highlighted in the condition’s name. Other listed ocular findings—cataract, aniridia, and retinitis pigmentosa—are not typical features of CHARGE and do not reflect its common ocular presentation.

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