Near-infrared autofluorescence in young choroideremia patients

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Purpose: To study near-infrared autofluorescence (NIR-AF) and short- wave autofluorescence (SW-AF) imaging modalities in young patients affected with choroideremia (CHM). Methods: NIR-AF and SW-AF images, Optical coherence tomography (OCT) and color fundus images were acquired from 3 young CHM patients (6 eyes) enrolled at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence. Results: We studied 3 young CHM patients (6 eyes). The mean age of the patients was 17,3 years. Using NIR-AF, patient P1 was characterized by speckled hypo-autofluorescent areas at the posterior pole with a preserved central hyper-autofluorescence while patient P2 and P3 were characterized by a preserved NIR-AF signal only at the fovea. Using SW-AF, patient P1 was characterized by a normal macular autofluorescence and by a speckled FAF pattern involved the vascular arcades while patient P2 and P3 showed well-demarcated hypo-autofluorescence areas involving the posterior pole with a preserved macular autofluorescence. The differences between NIR-AF and SW-AF were more pronounced in advanced stages. In correspondence of preserved NIR-AF, the OCT examination showed regular and continuous outer retinal hyperreflective bands. We observed abnormal RPE/Bruch’s membrane complex and EZ band externally to the NIR-AF signal area. Conclusions: NIR-AF imaging confirms an early RPE involvement allowing us to identify and to quantify the RPE pigment loss in choroideremia. For this reason, NIR-AF imaging can be useful for monitoring the progression of the disease and to study the effect of future treatments.

Original languageEnglish
Pages (from-to)421-427
Number of pages7
JournalOphthalmic genetics
Issue number5
Publication statusPublished - 21 Sept 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019, © 2019 Taylor & Francis Group, LLC.

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


  • autofluorescence
  • CHM
  • Choroideremia
  • FAF
  • melanin
  • SW-FAF
  • young

ASJC Scopus subject areas

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


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