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Related Experiment Videos

[Renal-coloboma syndrome].

V M Asensio Sánchez1, A Corral Azor, A Bartolomé Aragón

  • 1Hospital General del INSALUD, Medina del Campo, Valladolid, España.

Archivos De La Sociedad Espanola De Oftalmologia
|November 1, 2002
PubMed
Summary

Papillorenal syndrome links optic disc pits and kidney problems. A PAX2 gene mutation was identified in a family, highlighting the genetic basis of this condition.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Nephrology

Background:

  • Papillorenal syndrome is a rare genetic disorder characterized by optic nerve abnormalities and kidney malformations.
  • Mutations in the PAX2 gene are a known cause of this syndrome, but the phenotypic variability can be significant.

Observation:

  • This case report details a woman presenting with optic disc pit and bilateral renal hypoplasia, consistent with papillorenal syndrome.
  • DNA analysis confirmed a heterozygous mutation in the PAX2 gene (nucleotide 619 in exon 9).
  • The same PAX2 mutation was identified in her first uncle and a cousin, indicating familial inheritance.

Findings:

  • The study confirms the association between optic nerve colobomas and renal anomalies as an autosomal dominant syndrome.
  • PAX2 gene mutations are implicated in the pathogenesis of this syndrome.
  • The identified PAX2 mutation (c.619A>G) segregated within the affected family.

Implications:

  • Ophthalmologists should screen for renal anomalies in patients with optic nerve colobomas due to the high variability of ophthalmic and renal manifestations.
  • Genetic testing for PAX2 mutations can aid in the diagnosis and family counseling for papillorenal syndrome.
  • This case underscores the importance of a multidisciplinary approach in managing patients with syndromic conditions affecting multiple organ systems.

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