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PACHYCHOROID: an inherited condition?

Mathieu Lehmann1, Elodie Bousquet, Talal Beydoun

  • 1*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.

Retina (Philadelphia, Pa.)
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Summary
This summary is machine-generated.

Pachychoroid, a thick choroid, may be an inherited trait associated with central serous chorioretinopathy (CSC). This finding suggests pachychoroid could be a heritable condition with dominant transmission, important for CSC genetic studies.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Thick choroid, termed pachychoroid, is linked to central serous chorioretinopathy (CSC).
  • The heritability of pachychoroid remains unestablished.
  • Understanding pachychoroid's genetic basis is crucial for CSC research.

Purpose of the Study:

  • To investigate whether pachychoroid is an inherited condition.
  • To explore the potential genetic transmission of pachychoroid in families with CSC.

Main Methods:

  • Prospective observational study of first- and second-degree relatives of CSC patients.
  • Ophthalmic examinations included refraction, visual acuity, fundus photography, autofluorescence, and optical coherence tomography (OCT) for choroid thickness measurement.
  • Eyes were graded for retinal findings, with subfoveal choroidal thickness measured using enhanced depth imaging OCT.

Main Results:

  • Fifty percent of relatives exhibited a thick choroid (pachychoroid) using a 395 μm threshold.
  • Isolated pachychoroid was present in 28% of eyes without other visible retinal abnormalities.
  • These findings indicate pachychoroid may be present even without overt signs of CSC.

Conclusions:

  • Pachychoroid may be an inherited trait, potentially with dominant inheritance.
  • Pachychoroid's inclusion in the phenotype for CSC genetic studies is recommended.
  • This suggests a potential genetic link between pachychoroid and CSC susceptibility.