Progression in familial exudative vitreoretinopathy: Long-term clinical course and baseline predictors

To characterise the long-term clinical course of familial exudative vitreoretinopathy (FEVR) and identify baseline clinical features associated with disease progression.

In this retrospective cohort study, 191 eyes of 120 patients with FEVR and ≥ 3 years of follow-up at a tertiary referral centre were analysed. Progression was defined as worsening of clinical stage or development of increased exudation or vitreoretinal traction requiring treatment. Baseline clinical and angiographic features were evaluated using logistic regression. A prespecified subgroup analysis was performed in advanced-stage eyes (stages 3-4) to compare treatment approaches.

Progression occurred in 40 eyes (21%) over a mean follow-up of 78.9 ± 41.1 months, most frequently within the first year (55% of progressing eyes) but also observed up to 6 years (range 2-72 months). In multivariable analysis, the presence of a telangiectatic capillary network was the only independent predictor of progression (P < 0.001). In advanced-stage disease, vitreoretinal surgery was associated with lower odds of progression compared with laser photocoagulation after adjustment for baseline characteristics (adjusted OR 0.21; 95% CI 0.05 to 0.86; P = 0.029). Pathogenic variants were most commonly identified in LRP5 and FZD4.

Disease progression in FEVR occurs most frequently within the first year but may develop years later. A baseline telangiectatic capillary network is a strong independent predictor of progression. In advanced-stage disease, vitreoretinal surgery may be associated with a lower risk of progression compared with laser monotherapy.