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

  • Retinal Disorders
  • Published:
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Abstract

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.

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Financial disclosure

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

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Authors and Affiliations

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

    Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Andrea Sodi, Gianni Virgili & Stanislao Rizzo

  2. Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy

    Ilaria Passerini

  3. Pediatric Ophthalmology Unit, Meyer Children’s University Hospital, Florence, Italy

    Giacomo Bacci

  4. Medical Genetics Unit, Meyer Children’s University Hospital, Florence, Italy

    Sara Bargiacchi

Authors
  1. Vittoria Murro
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  2. Dario Pasquale Mucciolo
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  3. Dario Giorgio
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  4. Andrea Sodi
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  5. Ilaria Passerini
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  6. Giacomo Bacci
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  7. Sara Bargiacchi
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  8. Gianni Virgili
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  9. Stanislao Rizzo
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Corresponding author

Correspondence to Dario Pasquale Mucciolo.

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Murro, V., Mucciolo, D.P., Giorgio, D. et al. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM). Graefes Arch Clin Exp Ophthalmol 257, 2655–2663 (2019). https://doi.org/10.1007/s00417-019-04508-7

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  • DOI: https://doi.org/10.1007/s00417-019-04508-7

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