Choroidal Hyperreflective Foci as Biomarkers of Severity in Stargardt Disease.

Purpose: To investigate the clinical implications of choroidal hyperreflective foci (HF) as biomarkers of disease severity in Stargardt disease (STGD).

Methods: 129 eyes from 66 patients with STGD were included. The primary outcome was the correlation between the number of foveal choroidal HF and indicators of disease severity. Secondary outcome included a comparison of choroidal HF between the pathological and healthy borders of atrophy, and the two-year longitudinal change of foveal choroidal HF.

Results: Long disease duration, thin central macular thickness, large definitely decreased autofluorescence area, atrophic foveal retinal pigment epithelium (RPE), high Fishman stage, and low visual acuity were associated with a higher number of foveal choroidal HF. Foveal RPE involvement (β = 0.522, p < 0.001) was the most strongly correlated factor in multivariate analysis. Genotype-phenotype relationships between the number of severe ABCA4 variants and choroidal HF could not be determined. The pathological border had significantly more choroidal HF than the healthy border (p < 0.001), and the number of foveal choroidal HF increased over two years (p = 0.003).

Conclusion: Choroidal HF could serve as a biomarker of disease severity in STGD, correlating with various severity indicators and especially reflecting the presence of RPE atrophy.