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Related Experiment Videos

SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.

Lise Sels1, Werner Dirven2, Koenraad Devriendt3

  • 1Department of Ophthalmology, University Hospital Leuven Campus St. Rafaël, University of Leuven (KUL), Leuven, Belgium.

Retinal Cases & Brief Reports
|August 19, 2017
PubMed
Summary

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This Renal Coloboma Syndrome case study reveals progressive eye issues like myopia and lens opacities over 45 years. Despite severe initial defects, visual function remained largely stable, highlighting the syndrome

Area of Science:

  • Ophthalmology
  • Genetics
  • Nephrology

Background:

  • Renal Coloboma Syndrome (RCS) is a rare genetic disorder.
  • It affects multiple organs, including the eyes and kidneys.
  • PAX2 gene mutations are a known cause of RCS.

Observation:

  • A severe case of RCS with bilateral posterior eye defects, optic nerve aplasia, and a retrobulbar cyst was followed for 45 years.
  • Ocular examinations included angiography, electroretinography, OCT, and advanced imaging.
  • The patient's mother exhibited milder symptoms, including optic disc hypoplasia and renal disease.

Findings:

  • Progressive axial myopia in the right eye and band keratopathy in the left eye were observed.
  • Bilateral posterior lens opacities developed over time.

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  • Despite these changes, visual acuity and visual field in the functional right eye showed only minor decline.

    • Implications:

    • This long-term follow-up provides critical insights into the natural history of severe RCS.
    • Understanding the progressive ocular manifestations aids in managing patient care.
    • Genetic confirmation of a PAX2 mutation in both patient and mother reinforces genotype-phenotype correlations.