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PACHYCHOROID: An Inherited condition?

Lehmann, Mathieu MD*; Bousquet, Elodie MD*,†; Beydoun, Talal MD*; Behar-Cohen, Francine MD, PhD†,‡

doi: 10.1097/IAE.0000000000000287
Original Study
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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.

Isolated pachychoroid is observed in first and second-degree relatives of patients with central serous chorioretinopathy, suggesting a dominant transmission of this condition. Pachychoroid could be an inherited predisposing factor for central serous chorioretinopathy, and it should be considered when phenotyping individuals in central serous chorioretinopathy genetic studies.

*Hôtel-Dieu de Paris, AP-HP, Université Sorbonne Paris Cité, France;

Inserm UMR 1138, Physiopathology of Retinal Diseases: Therapeutic Innovation, Université Sorbonne Paris Cité, France, Centre de Recherche des Cordeliers, Paris, France; and

Department of Ophthalmology, University of Lausanne, Jules Gonin Ophthalmic Hospital, Switzerland.

Reprint requests: Francine Behar-Cohen, MD, PhD, Jules Gonin Hospital, 15 Avenue de France, Lausanne 1003, Switzerland; e-mail: Francine.beharcohen@fa2.ch

None of the authors have any financial/conflicting interests to disclose.

© 2015 by Ophthalmic Communications Society, Inc.