Application of ultra-widefield scanning laser ophthalmoscopy in early familial exudative vitreoretinopathy

This study aimed to evaluate the screening value and diagnostic performance of ultra-widefield scanning laser ophthalmoscopy (UWF-SLO) in early familial exudative vitreoretinopathy (FEVR) in asymptomatic first-degree relatives of affected patients, using fundus fluorescein angiography (FFA) as the reference standard. This retrospective cross-sectional diagnostic accuracy study included 68 asymptomatic first-degree relatives (136 eyes in total) confirmed as carriers of FEVR-causative genes via genetic testing. All subjects underwent both UWF-SLO and FFA examinations during the same period. Using FFA as the reference standard, we assessed the diagnostic agreement, sensitivity, and specificity of UWF-SLO. UWF-SLO detected at least one fundus abnormality in 92.6% (126/136) of eyes, while FFA did so in 95.6% (130/136). UWF-SLO detected vitreoretinal interface abnormalities (67.6%) and pigmentation within avascular areas (39.7%) that FFA could not reliably visualize. Using FFA as the reference standard, UWF-SLO demonstrated a sensitivity of 93.8% (95% CI: 88.2%–97.3%; 87.5%–98.5% by participant-clustered bootstrap) and a specificity of 33.3% (95% CI: 4.3%–77.7%; 0.0%–100.0% by participant-clustered bootstrap). The specificity estimate is based on only 6 FFA-negative eyes and should be interpreted with caution for diagnosing FEVR. UWF-SLO is a promising adjunctive non-invasive imaging modality for detecting FFA-defined peripheral abnormalities in genetically confirmed relatives at high risk for FEVR. It offers particular advantages in identifying structural fundus abnormalities and can serve as an effective complement to FFA.