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.
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.
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.
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.
In a noteworthy percentage of family members of patients with central serous chorioretinopathy findings characteristics for this disease can be detected. During follow-up, central serous chorioretinopathy developed in some individuals who were previously unaffected, suggesting a higher risk of this disease for family members of an affected proband.
*Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands;
†Department of Ophthalmology, Donders Institute of Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands;
‡Medical Retina Service, Rotterdam Eye Hospital, Rotterdam, the Netherlands; and
§Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Reprint requests: Camiel J. F. Boon, MD, PhD, FEBOphth, Department of Ophthalmology, Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, the Netherlands; e-mail: firstname.lastname@example.org
Supported by the following foundations: MaculaFonds, Retina Netherlands, Blinden-Penning, and Landelijke Stichting voor Blinden en Slechtzienden, that contributed through UitZicht, as well as Rotterdamse Stichting Blindenbelangen, Haagse Stichting Blindenhulp, ZonMw VENI Grant, and Gisela Thier Fellowship of Leiden University (C.J.F.B.), and Macula Vision Research Foundation, Stichting Nederlands Oogheelkundig Onderzoek, Stichting Blindenhulp, Stichting A.F. Deutman Oogheelkunde Researchfonds, Radboud Institute of Molecular Life Sciences, Gelderse Blindenstichting, and Nijmeegse Oogonderzoek Stichting (A.I.d.H. and E.K.d.J.). The funding organizations provided unrestricted grants.
None of the authors has conflicting interests to disclose.
E. H. C. van Dijk and R. L. Schellevis contributed equally to this study.
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