To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease.
Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease. Full-field electroretinogram (ffERG), medical history, and genotype data (in silico predictions) were further analyzed from the selected cohort.
Eight of 296 patients (2.7%) were found to exhibit small crystalline deposits that were detectable on certain imaging modalities, such as color, infrared reflectance and red-free images, but not autofluorescence. The deposits were most prevalent in the superior region of the macula, and spectral domain optical coherence tomography revealed their presence in the subretinal space. All patients presented with these findings at a notably advanced disease stage with abnormal ffERG and a high proportion of highly deleterious ABCA4 alleles.
Hyperreflective subretinal deposits may be a manifestation of advanced ABCA4 disease, particularly in regions susceptible to disease-related changes, such as lipofuscin accumulation.
An unusual accumulation of hyperreflective deposits is observed in a small fraction of patients with advanced Stargardt disease. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space and are associated with mostly deleterious mutations in the ABCA4 gene.
Departments of *Ophthalmology, and
†Pathology & Cell Biology, Columbia University, New York, New York.
Reprint requests: Rando Allikmets, PhD, Department of Ophthalmology, Eye Research Annex Rm 202, 160 Ft Washington Avenue, New York, NY 10032; e-mail: email@example.com
Supported, in part, by grants from the National Eye Institute/NIH EY021163, EY019861 and EY019007 (Core Support for Vision Research), and unrestricted funds from Research to Prevent Blindness (New York, NY) to the Department of Ophthalmology, Columbia University.
None of the authors has any conflicting interests to disclose.