Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

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.

KEYWORDS:

• ABCA4
• fundus autofluorescence
• macular degeneration
• retinal degeneration
• retinal imaging
• Stargardt disease

Funding

The work performed by the senior author (K. T. Jayasundera) is funded by National Eye Institute (1K23EY026985-01).

Additional information

Funding

The work performed by the senior author (K. T. Jayasundera) is funded by National Eye Institute (1K23EY026985-01).