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Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss. The syndrome has an autosomal dominant pattern of inheritance and can be caused by mutations in the _PAX2 _gene. In about half of cases, the underlying cause can not be determined.
Source: GARD Last updated on 05-01-20
The National Eye Institute (NEI) provides more information on anophthalmia and microphthalmia in general. The NEI was created to conduct research, distribute health information, and support other programs that protect and prolong the vision of Americans. Click on the above link to view information on this topic.
Last updated on 04-27-20
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