Familial chronic central serous chorioretinopathy
A C Weenink1, R A Borsje, J A Oosterhuis
1Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
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.
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.
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.
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