Thick choroid (pachychoroid) is associated with central serous chorioretinopathy (CSC), but whether pachychoroid is inherited is unknown.
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.
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.
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.firstname.lastname@example.org
None of the authors have any financial/conflicting interests to disclose.