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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
These may becongenital (prepapillary loop, Bergmeister papilla, persistent hyaloid artery, increased disc vessel numbers) oracquired (optic disc collaterals, neovascularisation, opticociliary shunts, dragged optic disc vessels). No treatment is needed but in acquired cases the cause must be sought. All causes are rare. Dragged disc vessels may be seen in familial exudative vitreoretinopathy (FEVR) or cicatricial retinopathy of prematurity.
How to master MCQs
Published in Chung Nen Chua, Li Wern Voon, Siddhartha Goel, Ophthalmology Fact Fixer, 2017
Familial exudative vitreoretinopathy is an autosomal dominant condition. Clinically it may resemble retinopathy of prematurity with failure of vascularisation in the temporal retina leading to fibrovascular changes with dragged macula and disc. However, a history of prematurity is absent. Although exudates are common, retinal detachment is rare. Poor vision usually results from rheumatogenous retinal detachment. The use of cryotherapy or photocoagulation to the avascular retina reduces complications.
Vitreoretinal Surgery in Rare Conditions
Published in Pradeep Venkatesh, Handbook of Vitreoretinal Surgery, 2023
Familial exudative vitreoretinopathy [FEVR] is a bilateral and often symmetrical disorder of peripheral retinal vascular development. Systemic features are generally absent, although a rare association with Turner syndrome has been reported. ROP is an important differential diagnosis. The condition was first described by Criswick and Schepens and is most commonly inherited as an autosomal dominant trait. There is a high degree of penetrance but variable expressivity. History of prematurity is absent. The disease can manifest at birth in some and remain quiescent in others until adulthood. The severity of manifestations ranges from mild and stable to severe and progressive. Clinical features include zone of avascular retina in the retinal periphery [usually temporal], straightening of temporal vessels, abrupt termination of blood vessels at the avascular zone in a brush border pattern, sclerosis of terminal vessels, peripheral exudation, and neovascularization [Figure 11.4]. Severe cases are characterized by congenital retinal fold, macular ectopia, and tractional and combined tractional–rhegmatogenous detachment. The benefit of prophylactic laser treatment or cryotherapy to the avascular area is a matter of debate because many reports suggest non-progression and regression of new vessels. In bilateral cases however, prophylactic laser ablation of avascular retina may be useful in the worse eye. Regular follow up of these children, if necessary, by examination under anaesthesia [EUA], is important to note signs of progression and to consider treatment options. In patients with progressive traction involving the macula and in those with combined traction–rhegmatogenous detachment, vitreoretinal surgery is helpful in maintaining vision. Since these patients are young and phakic and vitreoretinal attachments are strong, placing a band-buckle would improve the outcomes of vitreoretinal surgery. Aggressive attempts at inducing PVD are discouraged, but this must be compensated by careful debulking and shaving of the vitreous around regions of vitreous traction. As long-term vitreous tamponade is inevitable, silicone oil [preferably 5000 cs] should be preferred. In the event of silicone oil emulsification, it may be prudent to plan silicone oil exchange instead of silicone oil removal [owing to the higher risk of redetachment].
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Published in Ophthalmic Genetics, 2023
Sandra Hoyek, Marlene Wang, Audina M. Berrocal, Ashley Wong, Emily M. Place, Heather Mason-Suares, Angela E. Lin, Shizuo Mukai, Nimesh A. Patel
Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct forms of retinal angiopathy with overlapping clinical features. While the risk factors for ROP include low gestational age, low birth weight and oxygen supplementation, FEVR is an inherited condition resulting from germ-line pathogenic variants in genes usually in the Wnt pathway required for the growth and development of retinal blood vessels. Recent reports have described a small group of premature infants with atypical ROP with features consistent with FEVR (1–3). Genetic studies have revealed that many of these infants have germ-line pathogenic variants in one of the FEVR-associated genes (NDP, FZD4, LRP5, TSPAN12, ZNF408) (4). Premature neonates at risk for ROP, who carry a mutation that causes FEVR, appear to have a more aggressive course of retinopathy than ROP alone (5–7).
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy
Published in Annals of Medicine, 2022
Jianbo Mao, Yijing Chen, Yuyan Fang, Yirun Shao, Ziyi Xiang, Hanxiao Li, Shixin Zhao, Yiqi Chen, Lijun Shen
Familial exudative vitreoretinopathy (FEVR) is a rare inheritable ocular disorder characterized by abnormal retinal vascular growth. It usually occurs in full-term infants and children and can lead to fibrovascular proliferation, vitreoretinal traction, retinal folds and retinal detachment [1]. The clinical manifestations of FEVR vary considerably from no distinct symptoms to vision loss, presenting difficulties for clinical diagnosis and treatment. Fluorescein fundus angiography (FFA) remains the current gold standard for diagnosis; however, it is an invasive and extremely consuming procedure. Currently, wide-field fundus imaging is commonly used because it compensates for the shortcomings of FFA, facilitating 220–240° imaging of the retina. Optical coherence tomography (OCT) and OCT angiography (OCTA) are used to assess and quantify the structural and functional features of the retinal and choroidal vascular morphology, especially in the macula. These new modalities have found widespread application for diagnosing and monitoring the progression of FEVR.
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report
Published in Ophthalmic Genetics, 2021
Tingyi Liang, Xiang Zhang, Yu Xu, Peiquan Zhao
At the first visit, a full ocular examination was performed. The anterior segments were normal in both eyes. Intraocular pressure was 12 mm Hg (OD) and 13 mm Hg (OS). The axial length was 20 mm (OD) and 19 mm (OS). We performed an examination under anesthesia (EUA) for a comprehensive examination of fundus condition. EUA of the right eye revealed a variety of retinal vasculopathies, including tortuous and dilated posterior retinal vessels, peripheral retinal avascularity, anomalous retinal vessels at the border of avascular and vascular retina, and mild retinal exudation in posterior pole (Figure 1). In the left eye, the retinopathy was less severe than the contralateral eye; mild vascular tortuosity and dilation, and peripheral avascular retina were observed. Fluorescein angiography (FA) of both eyes demonstrated abnormal vascular anastomosis and telangiectatic vessels, non-perfused areas in peripheral retina, as well as retinal neovascularization with fluorescein leakage (Figure 2). The patient therefore underwent laser photocoagulation to anomalous retinal vessels and areas of peripheral avascular retina, as well as intravitreal injection of ranibizumab (0.5 mg) in both eyes. The presumptive diagnosis for the patient was familial exudative vitreoretinopathy (FEVR) in both eyes, though retinal vascular anomalies were felt to be atypical, including lack of straightening and increasing branching of peripheral vessels, and unusual posterior vascular activity resembling retinopathy of prematurity (ROP).