Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is characterized by failure of the temporal retina to vascularize and is phenotypically similar to ROP. Retinal folds and peripheral fibrovascular proliferation as well as tractional and exudative retinal detachment are often associated with FEVR (Fig 17-11). Temporal dragging of the macula may cause the patient to appear to have exotropia. Late-onset rhegmatogenous retinal detachments may occur. Generally, the earlier the disease presents, the more severe the manifestations.
The condition is frequently bilateral, although the severity of ocular involvement may be asymmetric. Unlike patients with ROP, individuals with FEVR are born full term and have normal respiratory status. In FEVR, the peripheral retinal vessels are dragged, straightened, and end abruptly a variable distance from the ora (brush border). Differentiation of FEVR from ROP is also aided by the family history and a careful examination of all family members. The only finding in some family members with FEVR may be a straightening of vessels and peripheral retinal nonperfusion. Parents and siblings of affected children may be mildly affected and asymptomatic. FA with peripheral sweeps or wide-field angiography is indispensable in examining family members. Treatment of the affected family members may consist of laser therapy applied to the avascular retina, guided by FA.
FEVR is usually inherited as an autosomal dominant trait, but X-linked transmission also occurs. Several different gene loci have been associated with the FEVR phenotype (Table 17-2). A number of genetic disorders can present with the retinal characteristics of FEVR, including dyskeratosis congenita, Coats plus disease, facioscapulohumeral muscular dystrophy, and progressive hemifacial atrophy (Parry-Romberg syndrome). It is important to differentiate these diseases genetically.
Ranchod TM, Ho LY, Drenser KA, Capone A Jr, Trese MT. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology. 2011;118(10):2070–2075.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.