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A congenital, pathologic, or operative fissure, especially of the eye or eyelid.



a defect of the tissue of the eyelids or any internal membrane of the eyeball.

Congenital coloboma, usually found in the choroid or retina, originates with defects in the formation of the embryonic eye. Acquired coloboma develops as a result of punctures of the eyeball or surgical intervention (for example, iridectomy). Coloboma of the eyelids is often associated with other defects of facial development (harelip, cleft palate).

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Alsing A et al reported bilateral atypical coloboma, familial juvenile nephronophthisis and skeletal dysplasia of upper limbs with bilateral radio humeral fusion in two sisters and proposed it to be a new oculo-reno-skeletal syndrome.

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