Related Experiment Video
Updated: Feb 26, 2026
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
Double hyperautofluorescent ring on fundus autofluorescence in ABCA4
Maria Fernanda Abalem1,2, Cynthia X Qian1,3, Kari Branham1
1a Department of Ophthalmology and Visual Sciences , University of Michigan Medical School , Ann Arbor , Michigan , USA.
Insights
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.
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.
Abstract:
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence. Over 4 years of follow-up, the retinal atrophy continued to progress, resulting in two well-defined and concentric hyperautofluorescent rings: one ring located at the posterior pole and the other located around the peripapillary region. Visual acuity also deteriorated to counting fingers at 4ft OD and 20/500 OS. To the best of our knowledge, this phenotype has not been previously described with the ABCA4 gene.
