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Renal coloboma syndrome

Other Names for this Disease
  • Coloboma of optic nerve with renal disease
  • Optic coloboma, vesicoureteral reflux, and renal anomalies
  • Optic nerve coloboma with renal disease
  • Papillorenal syndrome
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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.[1] 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.[1]
Last updated: 1/6/2012


  1. Renal coloboma syndrome. Genetics Home Reference. 2008; Accessed 1/6/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Renal coloboma syndrome. This website is maintained by the National Library of Medicine.
  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Renal coloboma syndrome. Click on the link to view a sample search on this topic.