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Updated: Jun 1, 2026

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis
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Published on: March 27, 2019

Renal coloboma syndrome.

Lisa A Schimmenti1

  • 1Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Center for Neurobehavioral Development and the Developmental Biology Center, University of Minnesota, 420 Delaware Street, Minneapolis, MN 55356, USA. las@umn.edu

European Journal of Human Genetics : EJHG
|June 10, 2011
PubMed
Summary

Renal coloboma syndrome (RCS) causes optic nerve and kidney abnormalities. PAX2 gene mutations are found in about half of affected individuals, impacting vision and kidney function.

Area of Science:

  • Ophthalmology
  • Nephrology
  • Genetics

Background:

  • Renal coloboma syndrome (RCS), or papillorenal syndrome, is an inherited disorder.
  • It presents with optic nerve dysplasia and renal hypodysplasia.

Purpose of the Study:

  • To summarize the key features of Renal Coloboma Syndrome.
  • To highlight the genetic basis and clinical consequences of RCS.

Main Methods:

  • Review of clinical and genetic findings in patients with RCS.
  • Analysis of ocular and renal malformations and their associated pathologies.

Main Results:

  • Ocular anomalies include dysplastic optic discs (optic nerve coloboma, morning glory anomaly), retinal coloboma, and pigmentary macular dysplasia.

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  • Renal abnormalities involve renal hypodysplasia with oligomeganephronia, leading to hypertension, proteinuria, and potential end-stage kidney disease.
  • Mutations in the PAX2 gene are identified in approximately half of RCS cases, influencing the observed phenotype.

    • Conclusions:

    • RCS is a complex genetic syndrome with significant ocular and renal manifestations.
    • Early diagnosis and management are crucial to mitigate complications like vision loss and kidney failure.
    • Further research into PAX2 and other genetic factors is needed to fully understand RCS phenotypes.