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.

METHODS

One hundred and twenty-nine eyes from 66 patients with Stargardt disease 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 pathologic and healthy borders of atrophy, and the 2-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, high Fishman stage, and low visual acuity were associated with a higher number of foveal choroidal HF. Foveal retinal pigment epithelium 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 pathologic border had significantly more choroidal HF than the healthy border ( P < 0.001), and the number of foveal choroidal HF increased over 2 years ( P = 0.003).

CONCLUSION

Choroidal HF could serve as a biomarker of disease severity in Stargardt disease, correlating with various severity indicators and especially reflecting the presence of retinal pigment epithelium atrophy.