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Updated: May 8, 2026

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

Diagnostic fundus autofluorescence patterns in achromatopsia.

Abigail T Fahim¹, Naheed W Khan, Sarwar Zahid

¹Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.

American Journal of Ophthalmology

|August 27, 2013

Summary

Fundus autofluorescence (FAF) reveals early foveal hyperfluorescence in achromatopsia patients, progressing to hypofluorescence with age. These diagnostic patterns correlate with optical coherence tomography (OCT) findings of foveal atrophy.

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Area of Science:

Ophthalmology
Medical Imaging
Genetics

Background:

Achromatopsia is a rare inherited retinal disorder characterized by reduced visual acuity, photophobia, and color vision deficits.
Diagnostic imaging modalities like fundus autofluorescence (FAF) and optical coherence tomography (OCT) are crucial for understanding retinal diseases.

Purpose of the Study:

To characterize the distinct fundus autofluorescence (FAF) patterns observed in patients diagnosed with achromatopsia.
To correlate these FAF findings with corresponding optical coherence tomography (OCT) features.

Main Methods:

An observational case series was conducted involving 10 patients with achromatopsia.
Evaluations included best-corrected visual acuity, ophthalmoscopy, Goldmann visual field testing, full-field electroretinography (ffERG), OCT, and FAF photography.
FAF patterns were analyzed in relation to patient age and foveal structural changes seen on OCT.

Main Results:

Patients were categorized into two age groups: younger (11-23 years) and older (52-63 years).
All patients exhibited significantly diminished photopic ffERG responses.
Younger patients showed minimal foveal atrophy on OCT and presented with foveal and parafoveal hyperfluorescence on FAF, an early sign also noted in an infant with CNGA3 mutations.
Older patients displayed advanced foveal atrophy with hypofluorescence and cavitation on OCT, correlating with punched-out hypofluorescent areas on FAF.

Conclusions:

Foveal hyperfluorescence on FAF serves as an early indicator for achromatopsia, aiding clinical diagnosis.
Age-dependent alterations in FAF patterns were observed, suggesting disease progression.
These FAF findings correlate with foveal atrophy and cavitation on OCT, offering potential for disease monitoring and defining therapeutic windows.