FEVR-familial exudative vitreoretinopathy.pptx

FEVR-familial exudative vitreoretinopathy.pptx

1. Gazi U niver sity , Ankara, Turkey [email protected] [email protected] FEVR

2. FEVR Mostly AD inheritance Defect in Wnt -NORRIN signal pathway genes : NDP, FZD4, LRP5, TSPAN12, ZNF408 Defective retinal angiogenezis : insufficient vascular differentiation Peripheral retinal vascularization is incomplete 21- 64% RD: Tractional +/- exudative

3. Clinical Findings Peripheral avascular areas ( esp . temporal ) Straightenning of vessels , macular ectopia Peripheral vascular loops abnormal telangiectatic vessels , hard exudates , NV Fibrovascular proliferation : Macular fold Exudative and TRD

4. Vitreous Disgenic vitreous (FEVR, Norrie , PFV, ROP) Vitreo-retinal adhesion is very strong Hyaloid membrane is multilaminar like onion rings Posterior hyaloid contracts following LPC or Anti-VEGF treatment Akito Shimouchi et al. Int Ophthalmol (2013) 33:711–715, Yonekawa Y et al. Ophthalmology 2015;122:2270-2277

5. PENDERGAST-CLASSIFICATION STAGE 1: Peripheral avascular retina STAGE 2: Retinal NVE STAGE  3: Macula on RD ( macula ectopic ) STAGE 4: Macula off RD ( macular fold ) STAGE 5: Total RD- Leucocoria

6. Diagnostic tips Presence of family history: Present in 45% of the cases, Asymptomatic family members (Family screening!) No Prematurity history Bilateral findings: Asymmetry! Presence of exudation! Life long progressive disease in spite of treatment!

7. Asymptomatic family members Ultrawidefield FA!

8. 37y old , Father , No known ocular problems , VA: 1.0/0.7

9. Newborn sibling of 2 days old , term baby

10. ROP: Classical regular homogeneous vascularization pattern at the ridge DIFFERENTIAL DIAGNOSIS FEVR VS ROP FEVR: Irregular vascularization and sprouting beyond transition zone Vascular prunning Pinpoint hiperfluorescent dots

11. Differential Diagnosis Peri ph er al avas c ul a r retina: ROP Incontinentia Pigmenti Norrie Disease (M) Tractional RD: PFV! Toxocara , Toxoplazma Retinal Exudative RD: Coats ! Ne ovas c ulari z a ti on: IRVAN, Eales

12. Treatment Options LASER STAGE 1: Peripheral avascular retina STAGE 2: Retinal NVE SURGERY STAGE 2: Retinal NVE- Vit Hem STAGE  3: Macula on RD ( macula ectopic ) STAGE 4: Macula off RD ( macular fold ) STAGE 5: Total RD

13. 19y old , M, FEVR, VA: 0.03, Fellow eye is NVG- Absolute

14. 6y old girl , bilat TRD, VA : 0.05

15. OPTOS RE: VA: 0.3

16. L E: VA: 0.2

17. VA: 0.2

18. How to follow FEVR cases ? May be asymmetric ! Fellow eye should be carefully examined ! (FA) It is progressive life long ! May need additional laser treatments even surgery !

19. 34 wk , 1700gr BW, girl baby Microcephaly since 6 mo old 14mo old at presentation RE: Esotropia Mental -Motor Retard ( mild-moderate )

20. WHAT TO DO NEXT?

21. DIAGNOSIS? ROP? FEVR? ROPER! John VJ, McClintic JI, Hess DJ, Berrocal AM. Ophthalmic Surg Lasers Imaging Retina. 2016. Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy : Report on Clinical and Angiographic Findings .

22. LAPPEL Sign LA te - P hase angiographic posterior and PE ripheral vascular L eakage Retinal e ndot h el ial cell in fla m ma tion marker Capillary dropout precursor Thanos A, Todorich B, Trese MT. A Novel Approach to Understanding Pathogenesis and Treatment of Capillary Dropout in Retinal Vascular Diseases. Ophthalmic Surg Lasers Imaging Retina. 2016

23. Anti- VEGFs in FEVR? The role of intravitreal ranubizumab in the treatment of FEVR of stage 2 or greater . Lu YZ et al. Int J Ophthalmol . 2018 As primary treatment ? Tagami M, Kusuhara S, Honda S, Tsukahara Y, Negi A. Rapid regression of retinal hemorrhage and NV in a case of FEVR treated with IVit bevacizumab . Graefes Arch Clin Exp Ophthalmol . 2008 ( case report ) As an adjunct to LPC/ VRS? Henry CR, Sisk RA, Tzu JH, Albini TA, Davis JL, Murray TG, Berrocal AM. Long-term follow-up of IVit bevacizumab for the treatment of pediatric retinal and choroidal diseases . J AAPOS. 2015. As a last option in persistent NVE / Exudation ? Quiram PA, Drenser KA, Lai MM, Capone A, Jr , Trese MT. Treatment of vascularly active FEVR with Macugen . Retina. 2008

24. Anti- VEGFs in FEVR? 13 cases 7 eyes with Stage 2/3A: As an adjunct to LPC 6 eyes with Stage 3B/4B: as an adjunct to Scleral buckle and / or PPV TRD progressed shortly after IVB in 3 of them and 2 eyes ended up with phytisation ! Henry CR, Sisk RA, Tzu JH, Albini TA, Davis JL, Murray TG, Berrocal AM. Long-term follow-up of IVit bevacizumab for the treatment of pediatric retinal and choroidal diseases . J AAPOS. 2015.

25. Steroid injections in FEVR?

26. LSV LV Gazi University Data 54 eyes , Family history in 33% SB LPC TREATMENTS

27. Family history (-) Screening of 1st degree relatives Peripheral retnal findings in 37/51 (72.5%) with UWFFA

28. Peripheral loop-shunt-anastomozis (66.6%)

29. Take Home Messages Be careful for asymetric disease ( fellow eye ) Family screening for the asymptomatic family members Life long follow-up with FA and need for lasers VR Surgery and laser saves these eyes .

30. Thank you [email protected] [email protected]