PACHYCHOROID: an inherited condition?
- Lehmann M *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.
- Bousquet E
- Beydoun T
- Behar-Cohen F
- 2014-07-22
Published in:
- Retina (Philadelphia, Pa.). - 2015
Adolescent
Adult
Aged
Central Serous Chorioretinopathy
Choroid
Choroid Diseases
Female
Fluorescein Angiography
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Prospective Studies
Retinal Pigment Epithelium
Tomography, Optical Coherence
Visual Acuity
English
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.
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.
- Language
-
- English
- Open access status
- green
- Identifiers
-
- DOI 10.1097/IAE.0000000000000287
- PMID 25046398
- Persistent URL
- https://sonar.ch/global/documents/246293
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