Vascular features around the optic disc in familial exudative vitreoretinopathy: findings and their relationship to disease severity

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare congenital disorder of retinal vascular development. We aimed to study the vascular characteristics around the optic disc in neonates with FEVR and the relationship with disease severity. METHODS: A retrospective, case-control study including 43 (58 eyes) newborn patients with FEVR at stages 1 to 3 and 30 (53 eyes) age-matched normal full-term newborns was conducted. The peripapillary vessel tortuosity (VT), vessel width (VW) and vessel density (VD) were quantified by computer technology. The t-distributed stochastic neighbor embedding (t-SNE) algorithm was used to visualize the relationship between the severity of FEVR and the characteristics of perioptic disc vascular parameters. RESULTS: The peripapillary VT, VW and VD were significantly increased in the FEVR group compared with the control group (P < 0.05). Subgroup analysis showed that VW and VD increased significantly with progressing FEVR stage (P < 0.05). And only VT in stage 3 FEVR was significantly increased compared with stage 1 and stage 2 (P < 0.05). After controlling the confounders, ordinal logistic regression analysis indicated that the VW (aOR: 1.75, P = 0.0002) and VD (aOR: 2.41, P = 0.0170) were significantly independent correlated with the FEVR stage, but VT (aOR: 1.07, P = 0.5454) was not correlated with FEVR staging. Visual analysis based on the t-SNE algorithm showed that peri-optic disc vascular parameters had a continuity along the direction of FEVR severity. CONCLUSIONS: In the neonatal population, there were significant differences in peripapillary vascular parameters between patients with FEVR and normal subjects. Quantitative measurement of vascular parameters around the optic disc can be used as one of the indicators to assess the severity of FEVR.