Optical Coherence Tomography Angiography (OCT-A) in Choroideremia (CHM) carriers

Vittoria Murro, Dario Pasquale Mucciolo*, Dario Giorgio, Andrea Sodi, Ilaria Passerini, Gianni Virgili, Stanislao Rizzo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Purposes: To explore OCT-A abnormalities in CHM carriers Methods: CHM carriers and age-matched controls were consecutively enrolled at the Eye Clinic in Florence. All patients underwent a complete ophthalmic examination, fundus photography, fundus autofluorescence (FAF) and OCT examinations. OCT-A images of the superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillaris slab (CC) were acquired and analyzed using ImageJ software to detect and quantify vascular density. Results: Six patients (12 eyes) and 8 age-matched controls (16 eyes) were included in our study. The mean age was 45.5 ± 16.3 years (range 15–61) for the CHM carriers and 46.6 ± 12.2 (range 18–54) for controls. All CHM carriers showed fundus abnormalities. The detected mean central retinal thickness (CRT) (220 ± 18.34 vs 227 ± 15.46; p = .342) and choroidal central thickness (CCT) (271 ± 54.28 vs 275 ± 38.36; p = .760) did not differ between the carrier and the control group, respectively. Quantitative analysis of the inner retinal vasculature disclosed no significant difference of both SCP (p = .437) and DCP (p = .859) vessel density compared to the control group. Of note, a mild reduction on the vascular flow of the CC could be detected in the carrier group compared to the control group (78.896 ± 13.972 vs 80.008 ± 10.862; p = .045). Conclusions: OCT-A allows us to underline the role of the retinal pigment epithelium in the CHM pathophysiology. Central inner retinal and choriocapillaris vascularization were preserved although the RPE was always involved in the CHM carrier: this could support a secondary role of vascular impairment in the natural history of the disease.

Original languageEnglish
Pages (from-to)146-151
Number of pages6
JournalOphthalmic genetics
Issue number2
Publication statusPublished - 01 Apr 2020
Externally publishedYes

Bibliographical note

Funding Information:
This research was partially supported by Minister of Health and Tuscany Region (Project NET-2016-02363765)

Publisher Copyright:
© 2020, © 2020 Taylor & Francis Group, LLC.

Copyright 2020 Elsevier B.V., All rights reserved.


  • carrier
  • CHM
  • Choroideremia
  • OCT
  • OCT-A
  • optical coherence tomography
  • REP1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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