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Coloboma of optic nerve

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Description

Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).

ORDO

  • Mode of Inheritance

    VARIANTS

    7

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM

      120430

    • Orphanet

      98947

    • HPO

      456

    • Medgen

      C0155299

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