FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY

Elon H C van Dijk, Rosa L Schellevis, Myrte B Breukink, Danial Mohabati, Greet Dijkman, Jan E E Keunen, Suzanne Yzer, Anneke I den Hollander, Carel B Hoyng, Eiko K de Jong, Camiel J F Boon

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Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)398-407
Aantal pagina's10
TijdschriftRetina
Volume39
Nummer van het tijdschrift2
DOI's
StatusGepubliceerd - feb 2019

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    van Dijk, E. H. C., Schellevis, R. L., Breukink, M. B., Mohabati, D., Dijkman, G., Keunen, J. E. E., Yzer, S., den Hollander, A. I., Hoyng, C. B., de Jong, E. K., & Boon, C. J. F. (2019). FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY. Retina, 39(2), 398-407. https://doi.org/10.1097/IAE.0000000000001966