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.

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in theRP1Gene: Extending theRP1Disease Spectrum

“…Most patients also underwent conventional fundus photography and/or ultra-widefield fundus imaging (Optos P200Tx; Optos, Dunfermline, UK), Goldmann perimetry, as well as spectral-domain optical coherence tomography (SD-OCT) using a confocal scanning laser ophthalmoscope (Spectralis HRAþOCT; Heidelberg Engineering, Heidelberg, Germany; Cirrus; Carl Zeiss Meditec, Inc., Dublin, CA; or Topcon 3D OCT-2000; Topcon, Inc, Tokyo, Japan ). Fundus autofluorescence (FAF) imaging was performed using the Spectralis HRAþOCT 308 3 308 field of view centered on the macula, 12 or the 2008 field of view from the ultra-widefield imaging device. All patients underwent full-field ERG, and multifocal electroretinography (mfERG) was performed in patients B-II:8, C-II:2, D-II:1, and E-II:2.…”

Repeatability and reliability of quantitative fundus autofluorescence imaging in patients with early and intermediate age‐related macular degeneration

“…) and used to distinguish different hereditary retinal diseases (Pichi et al. ). Distinctive alterations in AF spatial distribution can be detected in retinal disease, which allows conclusions about the RPE integrity as most of the fundus fluorescent signal originates from the RPE (Ach et al.…”

“…Autofluorescence is emitted at 520-800 nm with a peak between 590 and 630 nm (Delori 2004). Autofluorescence of the RPE can be assessed by confocal scanning laser ophthalmoscopy (von R€ uckmann et al 1995) and used to distinguish different hereditary retinal diseases (Pichi et al 2017). Distinctive alterations in AF spatial distribution can be detected in retinal disease, which allows conclusions about the RPE integrity as most of the fundus fluorescent signal originates from the RPE (Ach et al 2015).…”

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO)

“…Fundus autofluorescence intensity measurement has emerged as one of the key tools for noninvasive retinal imaging in retinal dystrophies for diagnostic purposes as well as for follow-up examinations [122]. In association with upcoming genetic specification and differentiation as well as emergent trials addressing genetic modification in retinal dystrophies [123][124][125], imaging modalities to record subtle changes in retinal metabolism and structures are essential.…”