Clinical features of familial exudative vitreoretinopathy_Chinese Journal of Ocular Fundus Diseases

Authors：

ZhangQi ,  ZhaoPeiquan , CaiXuan , 费萍 , 许宇 , 董洋 , 彭清 , 金海鹰 , 亢晓丽

Department of Ophthalmology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China;

Corresponding author：

ZhaoPeiquan, Email: zhaopeiquan@126.com

Keywords：

Retinal diseases/congenital; Fluorescein angiography

DOI：

10.3760/cma.j.issn.1005-1015.2014.04.010

Video：

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Objective To observe the clinical features of familial exudative vitreoretinopathy (FEVR). Methods 202 FEVR patients (404 eyes) from 84 families were included in this retrospective study, all the clinical diagnosis was made by the same expert in our Department. All patients were examined with slit lamp microscope, indirect ophthalmoscopy, children's retinal imaging system or Heidelberg HR2 fundus cameras for fundus photographs. Fluorescein angiography (FFA) was also performed for all patients, for those≤7 years old it was performed under general anesthesia. Data collected from charts included gender, age at presentation and family history. According to the fundus presentation and FFA results, FEVR was classified into 0-5 stages. Stage 0 (normal) is for the health fellow eye in unilateral FEVR; stage 1: retinal peripheral avascular zone with no fluorescence leakage in FFA; stage 2: retinal peripheral avascular zone, with fluorescence leakage in FFA; stage 3: partial retinal detachment not involving the macular; stage 4: partial retinal detachment involving the macular; stage 5: total retinal detachment. Results There were 119 male patients and 83 females. The average age of diagnosis was 16 months, the average gestational age was 39 weeks and the average birth weight was 3223 g in the proband. At the first clinical visit, there was clear family history of FEVR in 4 patients (1.98%); family history of other eye disease (nystagmus, cataract, small eyes, strabismus and others) in 25 patients (12.38%); not family history of eye disease in 173 patients (85.64%). FEVR family history was confirmed by fundus examination and FFA for the family members. In all 404 eyes, 9 eyes (2.23%) was normal, 162 eyes (40.10%) was stage 1, 97 eyes (24.01%) was stage 2, 72 eyes (17.82%) was stage 3, 20 eyes (4.95%) was stage 4, and 44 eyes (10.89%) was stage 5. In 202 patients, 59 cases (29.21%) was asymmetry bilateral disease with different stage for each eye. In 404 eyes, retinal fold was found in 74 eyes (18.32%). Conclusions FEVR was common in full-term and/or normal birth weight newborns. More than half of patients are in stage 1 and 2 without any clinical features. 29.21% eyes were asymmetry bilateral diseases.

Citation： ZhangQi, ZhaoPeiquan, CaiXuan. Clinical features of familial exudative vitreoretinopathy. Chinese Journal of Ocular Fundus Diseases, 2014, 30(4): 374-377. doi: 10.3760/cma.j.issn.1005-1015.2014.04.010 Copy

1.	Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68:578-594.
2.	Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy, clinical profile and management[J]. Indian J Ophthalmol, 2003, 51:323-328.
3.	Benson WE. Familial exudative vitreoretinopathy[J]. Trans Am Ophthalmol Soc, 1995, 93:473-521.
4.	张琦, 赵培泉.家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J].中华眼底病杂志, 2011, 27:263-266.
5.	Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutation in LRP5[J]. Am J Hum Genet, 2004, 75:878-884.
6.	Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy[J]. Ophthalmology, 2011, 118:2070-2075.
7.	van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1991, 111:34-41.
8.	Chen SN, Jiunn-Feng H, Te-Cheng Y. Pediatric rhegmatogenous retinal detachment in Taiwan[J]. Retina, 2006, 26:410-414.
9.	Yang H, Li S, Xiao X, et al. Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy[J]. Mol Vis, 2012, 18:2438-2446.
10.	Pendergast SD, Trese MT. Familial exudative vitreoretinopathy: results of surgical management[J]. Ophthalmology, 1998, 105:1015-1023.
11.	Natung T, Venkatesh P, Thangkhiew L, et al. Asymmetric presentations of familial exudative vitreoretinopathy[J]. Oman J Ophthalmol, 2013, 6:129-130.

1. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68:578-594.
2. Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy, clinical profile and management[J]. Indian J Ophthalmol, 2003, 51:323-328.
3. Benson WE. Familial exudative vitreoretinopathy[J]. Trans Am Ophthalmol Soc, 1995, 93:473-521.
4. 张琦, 赵培泉.家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J].中华眼底病杂志, 2011, 27:263-266.
5. Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutation in LRP5[J]. Am J Hum Genet, 2004, 75:878-884.
6. Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy[J]. Ophthalmology, 2011, 118:2070-2075.
7. van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1991, 111:34-41.
8. Chen SN, Jiunn-Feng H, Te-Cheng Y. Pediatric rhegmatogenous retinal detachment in Taiwan[J]. Retina, 2006, 26:410-414.
9. Yang H, Li S, Xiao X, et al. Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy[J]. Mol Vis, 2012, 18:2438-2446.
10. Pendergast SD, Trese MT. Familial exudative vitreoretinopathy: results of surgical management[J]. Ophthalmology, 1998, 105:1015-1023.
11. Natung T, Venkatesh P, Thangkhiew L, et al. Asymmetric presentations of familial exudative vitreoretinopathy[J]. Oman J Ophthalmol, 2013, 6:129-130.

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