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.
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.
Authors: Helena M A Feenstra; Elon H C van Dijk; Thomas J van Rijssen; Roula Tsonaka; Roselie M H Diederen; Carel B Hoyng; Reinier O Schlingemann; Camiel J F Boon Journal: Graefes Arch Clin Exp Ophthalmol Date: 2022-10-07 Impact factor: 3.535
Authors: Rosa L Schellevis; Elon H C van Dijk; Myrte B Breukink; Lebriz Altay; Bjorn Bakker; Bobby P C Koeleman; Lambertus A Kiemeney; Dorine W Swinkels; Jan E E Keunen; Sascha Fauser; Carel B Hoyng; Anneke I den Hollander; Camiel J F Boon; Eiko K de Jong Journal: JAMA Ophthalmol Date: 2018-10-01 Impact factor: 7.389
Authors: Rosa L Schellevis; Elon H C van Dijk; Myrte B Breukink; Jan E E Keunen; Gijs W E Santen; Carel B Hoyng; Eiko K de Jong; Camiel J F Boon; Anneke I den Hollander Journal: Mol Genet Genomic Med Date: 2019-02-06 Impact factor: 2.183
Authors: Rosa L Schellevis; Myrte B Breukink; Christian Gilissen; Camiel J F Boon; Carel B Hoyng; Eiko K de Jong; Anneke I den Hollander Journal: Sci Rep Date: 2019-04-29 Impact factor: 4.379