Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

ABSTRACT: Multimodal imaging provides insights into phenotype and disease progression in inherited retinal disorders. Congenital achromatopsia (ACHM), a cone dysfunction syndrome, has been long considered a stable condition, but recent evidence suggests structural progression. With gene replacement strategies under development for ACHM, there is a critical need for imaging biomarkers to define progression patterns and follow therapy. Using semiquantitative plots, near-infrared (NIR-AF) and short-wavelength autofluorescence (SW-AF) were explored and correlated with clinical characteristics and retinal structure on optical coherence tomography (OCT). In sixteen ACHM patients with genetic confirmation (CNGA3, n?=?8; CNGB3, n?=?7; PDE6C, n?=?1), semiquantitative plots allowed the detailed analysis of autofluorescence patterns, even in poorly fixating eyes. Twelve eyes showed perifoveal hyperautofluorescent rings on SW-AF, and 7 eyes had central hypoautofluorescent areas on NIR-AF, without association between these alterations (P?=?0.57). Patients with central NIR-AF hypoautofluorescence were older (P?=?0.004) and showed more advanced retinal alterations on OCT than those with normal NIR-AF (P?=?0.051). NIR-AF hypoautofluorescence diameter was correlated to patient age (r?=?0.63, P?=?0.009), size of ellipsoid zone defect on OCT (r?=?0.67, P?=?0.005), but not to the size of SW-AF hyperautofluorescence (P?=?0.27). These results demonstrate the interest of NIR-AF as imaging biomarker in ACHM, suggesting a relationship with age and disease progression.

SUBMITTER: Matet A 

PROVIDER: S-EPMC5884771 | biostudies-other | 2018 Apr

REPOSITORIES: biostudies-other