PACHYCHOROID: an inherited condition?

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2015

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info:eu-repo/semantics/altIdentifier/doi/10.1097/IAE.0000000000000287

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info:eu-repo/semantics/altIdentifier/pmid/25046398

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info:eu-repo/semantics/altIdentifier/eissn/1539-2864

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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_3A67608725DA6

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M. Lehmann et al., « PACHYCHOROID: an inherited condition? », Serveur académique Lausannois, ID : 10.1097/IAE.0000000000000287


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PURPOSE: Thick choroid (pachychoroid) is associated with central serous chorioretinopathy (CSC), but whether pachychoroid is inherited is unknown. METHODS: In a prospective observational study, first- or second-degree relatives (16 individuals) of 5 patients with CSC had refraction and visual acuity measurement, fundus examination, nonmydriatic photography, and autofluorescence photography. Eyes were graded using the following criteria: 0: normal fundus and autofluorescence photography, 1: focal retinal pigment epithelium hyperfluorescence and/or hypofluorescence and/or retinal pigment epithelial detachment, 2: CSC or diffuse retinal epitheliopathy. Choroid thickness was measured by enhanced depth imaging mode on optical coherence tomography. RESULTS: Considering 395 μm as the threshold limit for normal subfoveal choroidal thickness, 50% of the eyes from relatives had a thick choroid. Nine eyes of Grade 0 (28%) with an isolated pachychoroid would thus have been considered normal, if choroidal thickness was not included as a screening sign predisposing for CSC. CONCLUSION: Our observation suggests that pachychoroid could be an inherited condition with potentially a dominant transmission mode. Its inclusion in the phenotype of CSC for genetic studies should be considered.

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