Unilateral Familial Exudative Vitreoretinopathy

Aim: We aimed to present the patient because being unilateral and symptomatic, who is diagnosed as familial exudative vitreoretinapatia (FEVR) Case: In an 11-year-old male patient who presented with low vision and misalignment in the left eye, the best corrected visual acuity (BCVA) was found to be 0,9-1,0 for the right eye and 0,1 for the left eye. In the primary position, approximately 20 ° of esotropia was presented in the left eye. The globe movements were normal in all directions, and fixation was maintained with the cover test. The biomicroscopic examination was normal. On the fundus examination, the right eye was naturally observed, but on the left eye; a fibrovascular band extending from the optic disc to temporal (Figure 1) and the flattened temporal veins were observed. The differential diagnosis was premature retinopathy and FEVR, the patient didn’t have a premature birth history. The patient was directed to our retina and strabismus units. In the fundus fluorescein angiography of the retina of the patient, the right eye was naturally observed; in the left eye, fibrovascular band was extending from the optic disc to the upper temporal lobe, parallelism in the temporal veins, diffuse ischemic areas in the periphery, telangiectatic vessels and leaks were observed (Figure 2) The patient was referred for follow-up by considering the diagnosis of FEVR, and family members were called to the examination but the patient and relatives could not be reached again. Conclusion: FEVR is a bilateral, asymptomatic, asymmetric, inherited peripheral retinal vascular disease that commonly seen in individuals without premature birth history. However, it should not be forgotten that most of the cases emerged as new mutations. In small children, deterioration of following the object, pandemic nystagmus, strabismus, leukorrhoea may be found. Visual loss usually develops in the first decade. It must be kept in mind for this reason; As seen in our patient, being unilateral of the findings supporting the diagnosis does not exclude the FEVR. Abbreviations: FEVR: Familial Exudative Vitreoretinopathy; RD: Retinal Detachment; BCVA: Best Corrected Visual Acuity; VEGF: Intravitreal Antivascular Endothelial Growth Factor Biomedical Journal of Scientific & Technical Research Volume 8Issue 2: 2018 Cite this article: Dilan Y, Gamze M, Serkan E, Mehmet E KŞ, Mustafa NE. Unilateral Familial Exudative Vitreoretinopathy. Biomed Sci&Tech Res 8(2)2018. BJSTR MS.ID.001624. DOI: 10.26717/ BJSTR.2018.08.001624. 2/3 differential diagnosis was premature retinopathy and FEVR, the patient didn’t have a premature birth history. The patient was directed to our retina and strabismus units. Figure 1: Fibrovascular band. Results In the fundus fluorescein angiography of the retina of the patient, the right eye was naturally observed; in the left eye, fibrovascular band was extending from the optic disc to the upper temporal lobe, parallelism in the temporal veins, diffuse ischemic areas in the periphery, telangiectatic vessels and leaks were observed (Figure 2). The patient was referred for follow-up by considering the diagnosis of FEVR, and family members were called to the examination, but the patient and relatives could not be reached again. Figure 2: Fundus fluorescein angiography. Discussion Familial exudative vitreoretinopathy is a rare hereditary disease due to developmental failure in vascularization of the peripheral retina. Inability to complete vasculogenesis and angiogenesis leads to the appearance of vitreoretinal disorders [7]. Mutations in genes responsible for normal retinal vasculature cause peripheral capillaries to cause sudden termination of development. These endings lead to the development of new vessels and complications due to compensatory mechanism. The resulting gene mutations also contribute to increased vascular endothelial growth factor release and contribute to the chronic course of the disease [8]. Prematurity retinopathy, Norrie disease, incontinentia pigmenti, persentative fetal vasculature, toxocariasis and Coats’ should be considered in the differential diagnosis. Although they are less likely to interfere retinal capillary diseases such as hemangioblastomas, Eales disease, retinoschisis, sickle cell anemia and retinoblastomas, should be considered in the differential diagnosis too (2.5) Although it is clinically similar to retinopathy of prematurity, there is no preterm delivery in patients with FEVR, and in our study we did not have a preterm birth history [9]. Familial exudative vitreoretinopathy shows bilateral asymmetric involvement, especially in the adult age group [6]. As age increases, changes in FEVR findings and asymmetric clinical findings occur. Unilateral involvement was seen in our patients diagnosed at an early age. Clinical findings of the disease may vary widely. Mild peripheric avascular changes that occur incidentally in FA can be seen, as well as exudative and tractional findings that can lead to rapid retinal detachment. The vitreoretinal tight adhesions in the peripheral avascular retina, iatrogenic retinal tears and posterior hyaloid contraction in the posterior cause the tractional retinal detachment to occur easily [11,12]. FEVR is usually asymptomatic. Our present case complained of low vision. Although various classifications have been made to staging familial exudative vitreoretinopathy, the most commonly used Pendergast and Trese-related disease is classified as similar to staging in premature retinopathy, which distinguishes five stomachs (Table 1) [13]. According to this classification, our case is consistent with Stage 2a. Treatment options include laser photocoagulation, cryotherapy, intravitreal anti-vascular endothelial growth factor (VEGF) injections, or surgical treatment options for the treatment of patients with appropriate disease [14]. Table 1: Clinical classification of familial exudative vitreoretinopathin Pendergast and Trese. Stage 1: Avascular areas in peripheral retina without retinal vascularization Stage 2: Avascular areas in peripheral retina with non-retinal vascularization 2a: No exudation 2b: with exudation Stage 3: subtotal retinal detachment not involving the fovea 3a: No exudation 3b: with exudation Stage 4: subtotal retinal detachment involving the fovea 4a: No exudation 4b: with exudation Stage 5: Total retinal detachment Conclusion FEVR is a bilateral, asymptomatic, asymmetric, inherited peripheral retinal vascular disease that commonly seen in individuals without premature birth history. However, it should not be forgotten that most of the cases emerged as new mutations. In small children, deterioration of following the object, pandemic Biomedical Journal of Scientific & Technical Research Volume 8Issue 2: 2018 Cite this article: Dilan Y, Gamze M, Serkan E, Mehmet E KŞ, Mustafa NE. Unilateral Familial Exudative Vitreoretinopathy. Biomed Sci&Tech Res 8(2)2018. BJSTR MS.ID.001624. DOI: 10.26717/ BJSTR.2018.08.001624. 3/3 nystagmus, strabismus, leukorrhoea may be found. Visual loss usually develops in the first decade. It must be kept in mind for this reason; As seen in our patient, being unilateral of the findings supporting the diagnosis does not exclude the FEVR. References 1. Ryan SJ (2006) Retina In: Mosby (Eds.) Retina 4th (Edn). Elsevier Mosby Philedelphia, USA p. 1-3. 2. Joussen AM, Kirchhof B (2007) Familial exudative vitreoretinopathy. In: Joussen AM, Gardner TW, Kirchhof B, Ryan SJ (Eds.). Retinal vascular disease (Edn.). Springer-Verlag Berlin Heidelberg: pp. 567-580. 3. Poulter J, Davidson AE, Ali M, Gilmour DF,Parry DA (2012) et al. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci 16. 4. Ranchod TM, Ho LY, Drenser KA, Capone A Jr, Trese MT, et al. (2011) Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology 118: 2070-2075. 5. Saatci AO (2011) T Familial exudative vitreoretinopathy Klin Oftalmol 4: 44-47. 6. Shukla D, Singh J, Sudheer G, Soman M, John RK, et al. (2003) Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol 5: 323-238. 7. Zhao S, Overbeek PA (2001) Elevated TGFbeta signaling inhibits ocular vascular development. Dev Biol 237: 45-53. 8. Quiram PA, Drenser KA, Lai MM, Capone A Jr, Trese MT (2008) Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). Retina 28: 8-12. 9. Criswick VG, Schepens CL (1969) Familial exudative vitreoretinopathy. Am J Ophthalmol 68: 578-594. 10. Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM et al. (2006) Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Experiment Ophthalmol 34: 682-688 11. Ikeda T, Fujikado T, Tano Y, Koizumi K, Sawa H (1999)et al. Vitrectomy for rhegmatogenous or tractional retinal detachment with familial exudative vitreoretinopathy. Ophthalmology 106: 1081-1085. 12. Joshi MM, Ciaccia S, Trese MT, Capone A Jr (2006) Posterior hyaloid contracture in pediatric vitreoretinopathies. Retina 26(Suppl 7): 38-41. 13. Pendergast SD, Trese MT (1998) Familial exudative vitreoretinopathy. Results of surgical management. Ophthalmology 105: 1015-1023. 14. Kaderli B (2012) Familial exudative vitreoretinopathy. Retina-Vitreus 20: 120-124. Submission Link: https://biomedres.us/submit-manuscript.php Assets of Publishing with us • Global archiving of articles • Immediate, unrestricted online access • Rigorous Peer Review Process • Authors Retain Copyrights • Unique DOI for all articles https://biomedres.us/ This work is licensed under Creative Commons Attribution 4.0 License ISSN: 2574-1241 DOI: 10.26717/BJSTR.2018.08.001624 Gamze Maden. Biomed J Sci & Tech Res


Introduction
Familial exudative vitreoretinopathy (FEVR) is a rare vitreoretinal dystrophy that can be seen in childhood but can be diagnosed at any age [1]. Genetically heterogeneous FEVR may be autosomal dominant, recessive or X-linked [2][3] However, it should be kept in mind that only 37% of cases of FEVR have family history and most of the cases are new mutations [4,5]. The disease is often bilateral and asymmetric. Systemic findings and preterm delivery are usually absent [2]. Symptoms vary by age and most cases are asymptomatic. (2.5) In young children, deterioration following the object, pandemic nystagmus, strabismus, leukorrhoea may occur. Visual loss usually develops in the first decade. Visual loss in the second and third decades is rare and is often associated with retinal detachment (RD) [2]. Cataract, glaucoma, band keratopathy, vitreous hemorrhage, giant retinal tears and retinal detachment are common complications of the disease [6]. Optic atrophy and phthisis bulbi can also be seen in advanced stages of the disease. In this study, we aimed to present the patient for the reason that being unilateral and symptomatic, who is diagnosed as familial exudative vitreoretinapatia (FEVR)

Case Report
In an 11-year-old male patient who presented with low vision and misalignment in the left eye, the best corrected visual acuity (BCVA) was found to be 0,9-1,0 for the right eye and 0,1 for the left eye. In the primary position, approximately 20 ° of esotropia was presented in the left eye. The globe movements were normal in all directions, and fixation was maintained with the cover test. The biomicroscopic examination was normal. On the fundus examination, the right eye was naturally observed, but on the left eye; a fibrovascular band extending from the optic disc to temporal ( Figure 1) and the flattened temporal veins were observed. The 2/3 differential diagnosis was premature retinopathy and FEVR, the patient didn't have a premature birth history. The patient was directed to our retina and strabismus units.

Results
In the fundus fluorescein angiography of the retina of the patient, the right eye was naturally observed; in the left eye, fibrovascular band was extending from the optic disc to the upper temporal lobe, parallelism in the temporal veins, diffuse ischemic areas in the periphery, telangiectatic vessels and leaks were observed ( Figure 2). The patient was referred for follow-up by considering the diagnosis of FEVR, and family members were called to the examination, but the patient and relatives could not be reached again.

Discussion
Familial exudative vitreoretinopathy is a rare hereditary disease due to developmental failure in vascularization of the peripheral retina. Inability to complete vasculogenesis and angiogenesis leads to the appearance of vitreoretinal disorders [7]. Mutations in genes responsible for normal retinal vasculature cause peripheral capillaries to cause sudden termination of development. These endings lead to the development of new vessels and complications due to compensatory mechanism. The resulting gene mutations also contribute to increased vascular endothelial growth factor release and contribute to the chronic course of the disease [8].
Prematurity retinopathy, Norrie disease, incontinentia pigmenti, persentative fetal vasculature, toxocariasis and Coats' should be considered in the differential diagnosis. Although they are less likely to interfere retinal capillary diseases such as hemangioblastomas, Eales disease, retinoschisis, sickle cell anemia and retinoblastomas, should be considered in the differential diagnosis too (2.5) Although it is clinically similar to retinopathy of prematurity, there is no preterm delivery in patients with FEVR, and in our study we did not have a preterm birth history [9].
Familial exudative vitreoretinopathy shows bilateral asymmetric involvement, especially in the adult age group [6]. As age increases, changes in FEVR findings and asymmetric clinical findings occur. Unilateral involvement was seen in our patients diagnosed at an early age. Clinical findings of the disease may vary widely. Mild peripheric avascular changes that occur incidentally in FA can be seen, as well as exudative and tractional findings that can lead to rapid retinal detachment. The vitreoretinal tight adhesions in the peripheral avascular retina, iatrogenic retinal tears and posterior hyaloid contraction in the posterior cause the tractional retinal detachment to occur easily [11,12]. FEVR is usually asymptomatic. Our present case complained of low vision.
Although various classifications have been made to staging familial exudative vitreoretinopathy, the most commonly used Pendergast and Trese-related disease is classified as similar to staging in premature retinopathy, which distinguishes five stomachs (Table 1) [13]. According to this classification, our case is consistent with Stage 2a. Treatment options include laser photocoagulation, cryotherapy, intravitreal anti-vascular endothelial growth factor (VEGF) injections, or surgical treatment options for the treatment of patients with appropriate disease [14].

Conclusion
FEVR is a bilateral, asymptomatic, asymmetric, inherited peripheral retinal vascular disease that commonly seen in individuals without premature birth history. However, it should not be forgotten that most of the cases emerged as new mutations. In small children, deterioration of following the object, pandemic