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Ophthalmology

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Dec 30, 2013.

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    Coloboma of the Iris
    There is a spectrum of disease involving malformation of the eye, known as the microphthalmia-anophthalmia-coloboma spectrum. Coloboma can be associated with microphthalmia and with optic cysts, which are part of this spectrum.

    Many syndromes involving multisystem malformations include coloboma, for example:

    • CHARGE syndrome - Coloboma, Heart anomaly, choanal (nasal) Atresia, mental Retardation, Genital and Ear abnormalities.
    • Epidermal naevus syndrome.
    • Cat eye syndrome.
    • Velo-cardiofacial syndrome.
    • DiGeorge's syndrome.
    • Kabuki syndrome.
    • reference:http://www.patient.co.uk/doctor/Coloboma.htm
    • Coloboma in association with renal anomalies.

     

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