Unfortunately, due to the variety of symptoms and structures involved, there is no universal therapy for Coloboma RARE DISEASES? VISIT THE UNIAMO – ITALIAN FEDERATION FOR RARE DISEASES BOOTH AT EMERGENCY EXPO In two out of three cases, the reasons are genetic: genes have been identified whose mutation leads to the development of coloboma, including PAX2, CHX10, MAF, OTX2, SHH and CHD7.ĬHD7, in particular, is responsible for CHARGE syndrome, a genetic disease that leads to cardiac, genital and ear changes in addition to retinal and optic nerve coloboma.īecause of the possible correlation with other pathologies, it is necessary for several specialists to work together in a multidisciplinary team in order to identify other physical signs that will allow the problem to be framed and the possible treatment to be defined. This is the period in which the eye is shaped and during which structural problems can arise. These anatomical structures form in the early stages of prenatal development, between the fifth and seventh week of gestation. However, if the coloboma affects the retina and optic nerve, there can be serious visual impairment.ĬHILD HEALTH: LEARN MORE ABOUT MEDICHILD BY VISITING THE BOOTH AT EMERGENCY EXPO What, then, are all the anomalies linked to Coloboma? In the case of eyelid coloboma, the eyelid itself is deformed in part or all of its thickness, leaving part of the eyeball uncovered.Īlthough these deformities are visible to the naked eye, they do not usually result in significant loss of vision. The meaning of the term refers to the absence of eye tissue (literally “mutilation” or “truncation”).ĭepending on the structures involved, the disease manifests itself in a particular way: when the iris is affected, a malformation of the pupil appears that takes on a shape similar to a keyhole. Very few people know about coloboma, a rare eye disease that affects around 10 out of every 200,000 children born each year
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