Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM)

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Purpose: To investigate the prevalence and features of cystoid spaces (CS) in patients with confirmed genetic diagnosis of choroideremia (CHM) using swept source optical coherence tomography (OCT). Methods: We retrospectively reviewed CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration genetically confirmed CHM patients with ophthalmological and swept source optical coherence tomography (OCT) examinations. The presence/absence and location of cystoid spaces in the retina of each eye were reported. Results: A total of 42 eyes of 21 CHM patients were included in our series. The average age of the patients was 36.5 ± 20.1 (range, 13–73 years). The average best-corrected visual acuity (BCVA) for all patients was 0.63 ± 1.00 logMar (range, 0–2,80). CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of three patients, CS were detected also in ganglion cell layer (GCL). CS appeared as microcistoyd abnormalities and were detected in retinal areas characterized by retinal pigment epithelium (RPE) and outer retinal layers atrophy at the transition zone. Conclusions: Cystoid spaces in choroideremia showed peculiar features; they are clusters of small-size extrafoveal degenerative cysts mainly located in inner nuclear layer at the transition zone where outer retinal layers and RPE are severely damaged.

Original languageEnglish
Pages (from-to)2655-2663
Number of pages9
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Early online date26 Oct 2019
Publication statusPublished - 01 Dec 2019
Externally publishedYes

Bibliographical note

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

Publisher Copyright:
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.

Copyright 2019 Elsevier B.V., All rights reserved.


  • CHM, choroideremia macular edema
  • CME, cystoid macular edema
  • Cystoid spaces
  • Cysts
  • Retinal dystrophy

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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