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Related Experiment Video

Updated: Feb 26, 2026

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.

Maria Fernanda Abalem^1,2, Cynthia X Qian^1,3, Kari Branham¹

¹a Department of Ophthalmology and Visual Sciences , University of Michigan Medical School , Ann Arbor , Michigan , USA.

Ophthalmic Genetics

|July 21, 2017

Summary

This study details a rare Stargardt disease (STGD1) presentation in a child with ABCA4 gene variants, showing unique fundus changes and progressive vision loss not previously documented.

Keywords:

ABCA4 Stargardt disease fundus autofluorescence macular degeneration retinal degeneration retinal imaging

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Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Stargardt disease (STGD1) diagnosis in children can be challenging due to varied fundus findings and progression rates.
Recessive STGD1 is often linked to pathogenic variants in the ABCA4 gene.

Observation:

A 6-year-old boy with STGD1 and ABCA4 variants presented with mild foveal atrophy and hypoautofluorescence.
Fundus examination revealed symmetrical changes, with visual acuity of 20/200 OD and 20/150 OS.

Findings:

Over 4 years, progressive retinal atrophy led to two distinct hyperautofluorescent rings (posterior pole and peripapillary).
Visual acuity declined significantly to counting fingers OD and 20/500 OS.

Implications:

This report describes a previously undocumented phenotype in a child with STGD1 and ABCA4 gene variants.
Highlights the importance of recognizing diverse clinical presentations for accurate STGD1 diagnosis and management.