title: PACHYCHOROID: an inherited condition?
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: *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.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Lehmann
authors.forename: Elodie
authors.initials: E
authors.lastname: Bousquet
authors.forename: Talal
authors.initials: T
authors.lastname: Beydoun
authors.forename: Francine
authors.initials: F
authors.lastname: Behar-Cohen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D056833:Central Serous Chorioretinopathy / Q000175:diagnosis / Q000235:genetics*; D002829:Choroid / Q000473:pathology*; D015862:Choroid Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity