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Related Experiment Videos

[Ocular changes in Gardner syndrome].

V Stibor1, V Jirásek, P Bedrich

  • 1II. ocní klinika I. LF UK, Praha.

Ceskoslovenska Oftalmologie
|December 1, 1991
PubMed
Summary

Ophthalmological examination can detect congenital hypertrophy of the retinal pigment epithelium, a common sign in hereditary adenomatosis (Gardner's syndrome). This screening aids in identifying asymptomatic individuals and at-risk family members for early diagnosis.

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Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti·2005

Area of Science:

  • Ophthalmology
  • Genetics
  • Gastroenterology

Context:

  • Hereditary adenomatosis of the large bowel, also known as familial polyposis, often presents with extraintestinal manifestations.
  • Gardner's syndrome is a specific phenotype characterized by marked extracolic signs.
  • Congenital hypertrophy of the pigmented retinal epithelium is a newly described sign associated with this condition.

Purpose:

  • To investigate the prevalence of congenital hypertrophy of the pigmented retinal epithelium in patients with hereditary adenomatosis (Gardner's syndrome).
  • To assess the utility of ophthalmological examinations in detecting asymptomatic individuals within affected families.
  • To explore the contribution of ophthalmological findings to understanding the genetic aspects of the disease.

Summary:

  • The study examined 22 patients with confirmed Gardner's syndrome, finding pigmented retinal foci in 82% (18 subjects).
  • Among 25 children of these patients, 44% (11 subjects) showed positive ophthalmological findings.
  • Ophthalmological examination is a valuable tool for detecting asymptomatic hereditary adenomatosis, particularly in at-risk family members.

Impact:

  • Ophthalmological screening can significantly aid in the early detection of hereditary adenomatosis (Gardner's syndrome).
  • Identifying asymptomatic carriers facilitates genetic counseling and family risk assessment.
  • The study highlights the importance of integrating ophthalmological evaluations into the diagnostic pathway for hereditary polyposis syndromes.

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