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

Research output: Contribution to journalArticleResearchpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)398-407
Number of pages10
JournalRetina
Volume39
Issue number2
DOIs
Publication statusPublished - Feb 2019

Keywords

  • Central Serous Chorioretinopathy/diagnosis
  • Choroid/pathology
  • Disease Progression
  • Female
  • Fluorescein Angiography/methods
  • Follow-Up Studies
  • Fundus Oculi
  • Humans
  • Incidence
  • Male
  • Netherlands/epidemiology
  • Ophthalmoscopy/methods
  • Pedigree
  • Phenotype
  • Prospective Studies
  • Retina/pathology
  • Tomography, Optical Coherence/methods
  • Visual Acuity

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