Familial exudative vitreoretinopathy (FEVR) is a severe inherited vitreoretinal disorder. Recently, mutations in genes encoding frizzled 4 (FZD4), low density lipoprotein receptor-related protein 5 (LRP5), norrie disease protein (NDP), tetraspanin 12 (TSPAN12), zinc fmger protein 408 (ZNF408), kinesin family member 11 (KIF11) have so far been identified to cause FEVR. The former four genes have been shown to participate in the Wnt and Norrin-β-catenin signal pathway, which perform a crucial role for this pathway in ocular and vascular development. The primary clinical feature of FEVR is incomplete retinal vascular development on the temporal side of the peripheral retina, with or without abnormal retinal vascular differentiation. The clinical manifestations of this disease differ greatly among patients, from asymptomatic to complete retinal detachments with blindness. Fundus angiography and genetic screening are the main diagnostic methods for this disease and the early screening is extremely important in the treatment and prognosis. The progress can be controlled by laser treatment at the initial stage. Scleral buckling surgery and vitrectomy can be performed with advanced retinal detachment, but the prognosis is poor. The effect of anti-vascular endothelial growth factor drugs on new blood vessels may play a certain role in its treatment. With the in-depth study of pathogenesis, selective targeted treatment of FEVR pathogenic genes will become a new direction of treatment for some kinds of phenotype. This article reviews the recent advances of FEVR.
ObjectiveTo analysis the fundus characteristics of fundus fluorescein angiography (FFA) of retinopathy of prematurity (ROP). MethodsEighty-four cases (168 eyes) who were diagnosed with ROP by a binocular indirect ophthalmoscope were included in the study. Among the 84 cases, there were 2 cases (4 eyes) of stage 1 ROP, 26 cases (52 eyes) of stage 2 ROP, 40 cases (80 eyes) of stage 3 ROP, 4 cases (8 eyes) of stage 4 ROP, and 4 cases (8 eyes) of stage 5 ROP, 9 cases (18 eyes) of plus disease, 8 cases (16 eyes) of aggressive posterior ROP (APROP). All infants received FFA with RetCam Ⅱ under general anesthesia and mydriasis. The retinal vein morphology, capillary filling state, neovascularization morphology and fluorescein leakage were observed. ResultsFFA revealed increased branching, expansion and tortuous peripheral retinal capillaries, increased capillary permeability with a small amount of fluorescein leakage in stage 1 ROP. There was a clear dividing line between the vascular area and the remote avascular area. In stage 2, the peripheral branches of temporal retinal blood vessels increased, and parallel distributed like a broom. The capillary end anastomosed with each other to form a loop. The fibrous tissues at the lesion edge proliferated as a ridge, with popcorn phenomenon. In stage 3, the ridge continued broadening, and the neovascular fibrous membrane formed breakthrough internal limiting membrane, stretched into the vitreous with a lot of fluorescein leakage. The ridge and remote avascular zone demarcated clearly. In stage 4 and 5, the vessel changes had similar phenomenon with the stage 2 and 3 in undetached retina, but the vessels in the detached retina expanded with fluorescein leakage. As for plus disease, the retinal arterioles in the posterior pole were tortuous, there were a large number of non-perfusion area in the peripheral retina with hemorrhage and obscured fluorescence. The retinal vessels in posterior pole in AP-ROP were also tortuous, and the capillaries were extreme expanded, while there were very few tortuous vessels and no capillary formation in the other part of retina.At the avascular zone boundaries, there were a large group of neovascularization with fluorescein leakage. ConclusionsThe demarcation line separating the avascular from the vascularized retinal regions is formed in stage 1, 2 and 3, and the amount of fluorescein leakage gradually increase from stage 1 to stage 3 ROP. The detached retina of stage 4 and stage 5 has an unclear focal length in the FFA. The plus disease mainly has arteriolar tortuosity in the posterior pole retina. In the AP-ROP cases, both of the arterioles and venules in posterior pole of retina are tortuous and expanding with neovascularization leakage of fluorescein.