Near-infrared autofluorescence in young choroideremia patients

Abstract

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.

Keywords: CHM; Choroideremia; FAF; NIR-FAF; SW-FAF; autofluorescence; melanin; young.