Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Purpose: To report peculiar clinical findings in young choroideremia (CHM) patients. Methods: We retrospectively reviewed young (age <20 years at the first evaluation) CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence between 2012 and 2018. We took into consideration patients with ophthalmological examinations, fundus color photographs, fundus autofluorescence (FAF) images, optical coherence tomography (OCT) scans, full-field electroretinograms, and Goldmann visual fields. Results: In our series, we studied 8 young CHM patients (average age 13.8 years, median age 12.5, range 10-20) for a total of 16 eyes. Visual acuity (VA) was 20/20 in 7 patients and 20/25 in both eyes of 1 patient. We identified a peculiar central FAF pattern (detectable in 3 patients), characterized by reduced central hypo-autofluorescence. Long OCT scans showed different forms of parapapillary retinal involvement from the mildest to the most severe form when the macula is still preserved. In 3 patients, at the time of atrophic changes at the posterior pole, it was possible to detect a progressive reduction of foveal pigmentation during follow-up. We found mutations of the CHM gene in all 6 patients who had been screened. Conclusions: CHM is a progressive retinal disorder which involves both the peripheral and the central retina. Using a multimodal imaging approach, we described peculiar central abnormalities underlying the early involvement of the central retina in young CHM patients with a good VA.

Original languageEnglish
Pages (from-to)195-207
Number of pages13
Issue number4
Publication statusPublished - 01 Oct 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019 S. Karger AG, Basel.

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


  • Choroideremia
  • Fundus autofluorescence
  • Retinal dystrophy
  • Young age

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems


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