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Related Experiment Video

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Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
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En face OCT in choroideremia.

Vittoria Murro1, Dario Pasquale Mucciolo1, Andrea Sodi1

  • 1Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

Ophthalmic Genetics
|January 14, 2020
PubMed
Summary
This summary is machine-generated.

Outer retinal tubulation (ORT) morphology in choroideremia (CHM) was visualized using en face optical coherence tomography (OCT). This imaging technique revealed distinct ORT patterns in 83.3% of patients, aiding disease characterization.

Keywords:
CHMOCTORTchoroideremiaen face OCTinherited retinal diseasesouter retinal tubulations

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Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Genetics

Background:

  • Choroideremia (CHM) is an X-linked inherited retinal disease.
  • Outer retinal tubulation (ORT) is a pathological finding in various retinal diseases.
  • En face optical coherence tomography (OCT) offers high-resolution cross-sectional imaging of retinal structures.

Purpose of the Study:

  • To describe the morphology of outer retinal tubulations (ORTs) in patients with choroideremia (CHM) using en face OCT.
  • To identify and classify different en face OCT patterns of ORTs in CHM.
  • To assess the prevalence and characteristics of ORTs in a cohort of CHM patients.

Main Methods:

  • Retrospective review of genetically confirmed CHM patients.
  • Ophthalmological, fundus autofluorescence (FAF), and optical coherence tomography (OCT) examinations were analyzed.
  • En face OCT imaging was used to study ORT morphology in 36 eyes of 18 CHM patients.

Main Results:

  • Outer retinal tubulations (ORTs) were identified in 83.3% of CHM patients (30/36 eyes).
  • Three distinct en face OCT patterns of ORTs were observed: peripapillary with pseudodendritic ORTs (26.7%), central islands with pseudodendritic ORTs (53.3%), and residual outer retina without ORTs (20.0%).
  • ORTs were not detected in patients with the mildest phenotypes.

Conclusions:

  • En face OCT imaging reveals diverse ORT morphologies in CHM, reflecting different disease stages.
  • ORTs are a common finding in CHM, with specific patterns identifiable by en face OCT.
  • En face OCT is a valuable, non-invasive tool for characterizing and monitoring choroideremia.