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Myrte Breukink, Anneke Den Hollander, Jan Keunen, Carel Hoyng, Camiel Boon; Familial occurence of chronic central serous chorioretinopathy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2801.
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This study aims to evaluate clinical features found in siblings of patients with chronic central serous chorioretinopathy (CSC).
Seven families were included in this study. Two families were selected because two siblings were known to be affected by the disease. The other five families were included because four or more siblings were available for clinical evaluation. All siblings underwent a clinical examination including best-corrected visual acuity, a stress questionnaire, evaluation of the medical history, fundus photography, fundus autofluorescence imaging (FAF), spectral-domain optical coherence tomography (OCT) and oral fluorescein angiography (FA).
The age at onset in the two families with two affected siblings was similar (48 and 49 years) in family 1, but differed (39 and 50 years) in family 2. We observed subretinal fluid and foveal atrophy on OCT in both eyes of the proband and unilaterally in the affected sibling in family 1. The proband of family 2 presented with bilateral diffuse CSC abnormalities on fundus photograpy, FA, FAF and OCT. The affected brother had similar unilateral disease on examination. Among the five families without reported family history, no fundus abnormalities were seen in the siblings of one family, whereas evidence of CSC was observed in at least 1 sibling of the other families. A total of 7 siblings out of 34 examined siblings (18.9%) from these 5 families showed abnormalities compatible with CSC on multimodal imaging. One sibling had no features of CSC but showed cuticular drusen without visual complaints.
Chronic CSC may affect several members of the same family. Family history taking may underestimate the number of affected individuals, because mild CSC abnormalities may occur outside the macula, without obvious visual complaints. Familial occurrence of CSC suggests that a genetic component might contribute to the complex disease pathogenesis.
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