Lee Seo Yoon, Yoon Chang Ki, Park Un Chul, Park Kyu Hyung, Lee Eun Kyoung
Medical Program, Seoul National University College of Medicine, Seoul, Korea ; and.
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea .
Retina. 2025 Apr 1;45(4):774-784. doi: 10.1097/IAE.0000000000004367.
To investigate the clinical implications of choroidal hyperreflective foci (HF) as biomarkers of disease severity in Stargardt disease.
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.
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).
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.
研究脉络膜高反射灶（HF）作为斯塔加特病疾病严重程度生物标志物的临床意义。
纳入66例斯塔加特病患者的129只眼。主要观察指标是黄斑区脉络膜HF数量与疾病严重程度指标之间的相关性。次要观察指标包括萎缩病变区病理边界与健康边界处脉络膜HF的比较，以及黄斑区脉络膜HF的2年纵向变化。
病程长、中心黄斑厚度薄、明确的自发荧光降低面积大、萎缩性黄斑视网膜色素上皮、高菲什曼分期和低视力与黄斑区脉络膜HF数量较多相关。在多因素分析中，黄斑视网膜色素上皮受累（β = 0.522，P < 0.001）是相关性最强的因素。无法确定严重ABCA4变异数量与脉络膜HF之间的基因型-表型关系。病理边界处的脉络膜HF明显多于健康边界（P < 0.001），且黄斑区脉络膜HF数量在2年中增加（P = 0.003）。
脉络膜HF可作为斯塔加特病疾病严重程度的生物标志物，与多种严重程度指标相关，尤其能反映视网膜色素上皮萎缩的存在。
