Coloboma of eye lens

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A rare genetic developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective or absent development of the zonule and flattening of the equator in the region of the zonular defect typically manifesting with reduced visual acuity. Other ocular anomalies such as iris choroid or optic disc colobomas as well as cataracts and retinal detachment may be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Coloboma of eye lens?

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