Fundus autofluorescence imaging in hereditary retinal diseases

Abstract

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to non-invasively map changes at the level of the retinal pigment epithelium (RPE)/photoreceptor complex and alterations of macular pigment distribution. This imaging method is based on the visualization of intrinsic fluorophores and may be easily and rapidly used in routine patient care. Excessive accumulation of lipofuscin granules in the lysosomal compartment of RPE cells represents a common downstream pathogenic pathway in various hereditary and complex retinal diseases. The clinical applications of FAF continue to expand. It is now an essential tool for evaluating macular dystrophies and various hereditary retinal disorders. Fundus autofluorescence (FAF) may detect abnormalities beyond those detected on funduscopic examination, fluorescein angiography (FA) or optical coherence tomography (OCT). Fundus autofluorescence (FAF) imaging is particularly helpful for differential diagnosis, detection and extent delineation of involved retinal areas, genotype-phenotype correlations and monitoring of changes overtime. Given its ease of use, non-invasive nature and value in characterizing retinal disease, FAF enjoys increasing clinical relevance. This review summarizes basic principles and FAF findings in various hereditary retinal diseases.

Keywords: Fundus albipunctatus; North carolina macular dystrophy; Stargardt disease; bestrophinopaties; choroideremia; enhanced S-cone syndrome.