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Related Experiment Videos

Familial chronic central serous chorioretinopathy.

A C Weenink1, R A Borsje, J A Oosterhuis

  • 1Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
|May 8, 2001
PubMed
Summary

Central serous chorioretinopathy (CSC) and retinal pigment epithelium (RPE) atrophy show familial aggregation. Many relatives of affected patients exhibit fundus lesions, suggesting a genetic component in chronic CSC.

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Central serous chorioretinopathy (CSC) is a condition affecting the retina.
  • Its chronic and progressive forms are less understood, particularly regarding familial links.

Purpose of the Study:

  • To investigate the familial occurrence of fundus lesions in patients with chronic central serous chorioretinopathy (CSC).
  • To assess the prevalence of retinal pigment epithelium (RPE) abnormalities in relatives of CSC patients.

Main Methods:

  • Ophthalmologic examinations were performed on 27 patients with chronic CSC and 80 relatives.
  • Methods included visual acuity testing, Amsler grid, ophthalmoscopy, and fluorescein angiography.
  • Fundus findings were categorized as normal, RPE atrophy, or chronic CSC with leakage.

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Main Results:

  • 52% of families had at least one affected relative.
  • 44% of investigated relatives (35 individuals) presented with fundus lesions.
  • Lesions included chronic CSC and/or RPE atrophy in affected relatives.

Conclusions:

  • Fundus lesions characteristic of chronic central serous chorioretinopathy (CSC) and retinal pigment epithelium (RPE) atrophy demonstrate familial aggregation.
  • A significant proportion of relatives exhibit these findings, indicating a potential genetic predisposition.
  • The exact mode of inheritance for CSC could not be determined in this study.