2018, Number 1
<< Back Next >>
Rev Mex Oftalmol 2018; 92 (1)
Causal diagnosis of familial exudative vitreoretinopathy in 2 asymptomatic siblings. Wide-field image study of retinal abnormalities observed in the posterior pole
Ramos-Suárez A, Gismero-Moreno S, Tirado-Carmona A, Lorenzo-Soto M, García-Martín F
Language: Spanish
References: 15
Page: 43-49
PDF size: 572.18 Kb.
ABSTRACT
Familial exudative vitreoretinopathy is a rare inherited disease classified in the group of vitreoretinal dystrophies. It is characterised
by the abnormal development of peripheral retinal vessels, which can provoke pathologies ranging from mild peripheral
ischaemia to neovascularisation, vitreous bleeding and even retinal detachment. To overcome the difficulty of diagnosis
in mild and asymptomatic cases, researchers have recently described objective signs that may be observed in the
posterior pole. We present the clinical cases of 2 siblings diagnosed with familial exudative vitreoretinopathy, fortuitously,
during the study of uveitis in one of them. Wide-field fluorescein angiography was of great help in the diagnosis and monitoring
of this condition. Most of the new signs described in the posterior pole are present in our cases. One of the siblings,despite being asymptomatic, required laser photocoagulation of the peripheral retina. This was performed at an early stage,
which enabled good anatomical and functional results to be achieved.
REFERENCES
Criswick V, Schepens C. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94.
Gilmour D. Familial exudative vitreoretinopathy and related retinopathies. Eye. 2015;29:1–14.
Yonekawa Y, Thomas BJ, Drenser KA, et al. Familial exudative vitreoretinopathy: Spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid. Ophthalmology. 2015;122(11):2270–7.
Yuan M, Yang Y, Yu S, et al. Posterior pole retinal abnormalities in mild asymptomatic FEVR. Invest Ophthalmol Vis Sci. 2014;56:458–63.
Biccas Neto L, Mesquita AS, Louro ID. Familial exudative vitreoretinopathy (FEVR) associated with infantile osteoporosis: case report. Arq Bras Oftalmol. 2009;72:257–60.
Shimouchi A, Takahashi A, Nagaoka T, et al. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol. 2013;33:711–5.
Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology. 2011;118(10):2070–5.
Piñero A, Sempere J, Nadal J, Elizalde–Montagut J. Vitreorretinopatía exudativa familiar: nuestra experiencia. Arch Soc Esp Oftalmol. 2008;83(12):703–7.
Miller KE, Willis MJ, McClatchey SK. A case of familial exudative vitreoretinopathy identified after genetic testing. J AAPOS. 2015;19:178–80.
Shastry B, Trese M. Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. Eur J Hum Genet. 2004;12:79–82.
Bottomley HM, Downey LM, Inglehearn CF, et al. Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’. Eur J Hum Genet. 2006;14:6–7.
Pendergast SD, Trese MT. Familial exudative vitreoretinopathy: Results of surgical management. Ophthalmology. 1998;105:1015–23.
Quiram PA, Drenser KA, Lai MM, et al. Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). Retina. 2008;28:S8–S12.
Sisk RA, Berrocal AM, Albini TA, et al. Bevacizumab for the treatment of pediatric retinal and choroidal diseases. Ophthalmic Surg Lasers Imaging Retina. 2010;41:582.
Benson WE. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc. 1995;93:473–521.