Journal
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
Volume 39, Issue 2, Pages 398-407Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/IAE.0000000000001966
Keywords
central serous chorioretinopathy; disease progression; familial; genetics; phenotyping
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Funding
- MaculaFonds
- Retina Netherlands
- Blinden-Penning
- Landelijke Stichting voor Blinden en Slechtzienden
- Macula Vision Research Foundation
- Stichting Nederlands Oogheelkundig Onderzoek
- Stichting Blindenhulp
- Stichting A.F. Deutman Oogheelkunde Research-fonds
- Radboud Institute of Molecular Life Sciences
- Gelderse Blindenstichting
- Nijmeegse Oogonderzoek Stichting
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Purpose: To assess ophthalmologic characteristics in patients and unaffected individuals in families with multiple members affected by central serous chorioretinopathy (CSC), both at presentation and long-term follow-up. Methods: In 103 subjects from 23 families with at least 2 affected patients with CSC per family, prospective extensive ophthalmologic examination was performed, including best-corrected visual acuity, indirect ophthalmoscopy, digital color fundus photography, optical coherence tomography, fundus autofluorescence, and fluorescein angiography imaging. From these, 24 individuals from 6 families had undergone extensive ophthalmologic examination in either 1994 or 1995 and were followed up in this study. Results: Subretinal fluid accumulation on optical coherence tomography and/or hot spots of leakage on fluorescein angiography indicative of CSC were detected in 45 of 103 phenotyped subjects (44%). Findings suggestive of CSC, but without the presence of subretinal fluid on optical coherence tomography and/or hot spots of leakage on fluorescein angiography, were observed in an additional 27 family members (26%). In 4 of 17 previously nonaffected subjects (24%) from the 24 individuals that were followed up after more than 20 years, we found more severe abnormalities. Conclusion: Extensive ophthalmologic phenotyping resulted in the detection of (suggestive) CSC in 52% of family members of patients with CSC. Genetic factors may play an important role in these specific CSC cases. Moreover, during follow- up, progressive disease can occur in a noteworthy number of patients.
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