The diagnosis and treatment of pediatric retinal disease_Chinese Journal of Ocular Fundus Diseases

Authors：

 ZhaoPeiquan , ZhangQi , XuYu

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

Corresponding author：

ZhaoPeiquan, Email: zhaopeiquan@126.com

Keywords：

Retinal diseases/diagnosis; Retinal diseases/therapy; Genetic testing/utilization; Editorial

DOI：

10.3760/cma.j.issn.1005-1015.2014.01.001

Video：

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Paediatric retinal disease is the most important part of paediatric ophthalmology. It usually manifests as leukocoria or yellow pupil, typically in retinopathy of prematurity, familial exudative vitreoretinopathy, persistent hyperplastic primary vitreous, Coats disease and retinoblastoma. It also can be manifested as nystamus poor visual fixation or progressive worsening of visual function, typically in Leber congenital amaurosis, Stargardt disease, Best disease and cone and rod dystrophy. Paediatric retinal diseases can be roughly divided into acquired, hereditary and congenital developmental abnormalities. With the development of gene and stem cell technologies, the advent of new medicine, equipments and new techniques, the concept of diagnosis and treatment in paediatric retinal diseases is also changing. In China, the level is improving progressively in both clinical and research areas of paediatric retinal diseases.

Citation： ZhaoPeiquan, ZhangQi, XuYu. The diagnosis and treatment of pediatric retinal disease. Chinese Journal of Ocular Fundus Diseases, 2014, 30(1): 1-5. doi: 10.3760/cma.j.issn.1005-1015.2014.01.001 Copy

1.	赵培泉,费萍. 早产儿视网膜病变诊断治疗研究现状、问题及展望[J].中华眼底病杂志,2012, 28:3-7.
2.	Kuhrt H, Gryga M, Wolburg H, et al. Postnatal mammalian retinal development:quantitative data and general rules[J]. Prog Retin Eye Res, 2012, 31:605-621.
3.	Ranchod TM, Capone A Jr. Tips and tricks in pediatric vitreoretinal surgery[J]. Int Ophthalmol Clin, 2011, 51:173-183.
4.	Lin KL, Hirose T, Kroll AJ, et al. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition[J]. Semin Ophthalmol, 2009, 24:70-76.
5.	Kriss A, Jeffrey B, Taylor D. The electroretinogram in infants and young children[J]. J Clin Neurophysiol, 1992, 9:373-393.
6.	Hussein MA, Coats DK, Paysse EA. Use of the RetCam 120 for fundus evaluation in uncooperative children[J]. Am J Ophthalmol, 2004, 137:354-355.
7.	Young B, Eggenberger E, Kaufman D. Current electrophysiology in ophthalmology:a review[J]. Curr Opin Ophthalmol, 2012, 23:497-505.
8.	El-Dairi MA, Asrani SG, Enyedi LB, et al. Optical coherence tomography in the eyes of normal children[J]. Arch Ophthalmol, 2009, 127:50-58.
9.	Kang KB, Wessel MM, Tong J, et al. Ultra-widefield imaging for the management of pediatric retinal diseases[J]. J Pediatr Ophthalmol Strabismus, 2013, 50:282-288.
10.	Verdina T, Tsang SH, Greenstein VC, et al. Functional analysis of retinal flecks in Stargardt disease[J/OL]. J Clin Exp Ophthalmol, 2012,3:E1[2012-07-30]. http://www.ncbi.nlm.nih.gov/pubmed/24409374.
11.	Fakin A, Jarc-Vidmar M, Glavac D, et al. Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2[J]. Vis Res, 2012, 75:60-70.
12.	Xu Y, Zhou X, Zhang Q, et al. Screening for retinopathy of prematurity in China:a neonatal units-based prospective study[J]. Invest Ophthalmol Vis Sci, 2013, 54:8229-8236.
13.	许迅. 规范眼底影像检查数据采集、评估行为,提升眼底影像检查诊断技术应用水平[J]. 中华眼底病杂志, 2013, 29:449-452.
14.	张清炯. 加强眼底病基因研究,为防盲致盲作出更大贡献[J]. 中华眼底病杂志, 2011, 27:405-407.
15.	杨文杰,张琦,赵培泉. 家族性渗出性玻璃体视网膜病变致病基因及信号传导途径[J]. 中华眼底病杂志, 2011, 27:497-499.
16.	张勤,张琦,赵培泉. NDP基因相关视网膜病变研究[J]. 临床儿科杂志, 2013, 31:481-483.
17.	Al-Saikhan FI. The gene therapy revolution in ophthalmology[J]. Saudi J Ophthalmol, 2013, 27:107-111.
18.	Binley K, Widdowson P, Loader J, et al. Transduction of photoreceptors with equine infectious anemia virus vectors:safety and biodistribution of StarGen for Stargardt disease[J]. Invest Ophthalmol Vis, 2013, 54:4061-4071.
19.	Pang JJ, Deng WT, Dai X, et al. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia[J/OL]. PLoS One, 2012, 7:E35250[2012-04-11].http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0035250.
20.	Hufnagel RB, Ahmed ZM, Corrêa ZM, et al. Gene therapy for Leber congenital amaurosis:advances and future directions[J]. Graefe's Arch Clin Exp Ophthalmol, 2012, 250:1117-1128.
21.	Ventrice P, Leporini C, Aloe JF, et al. Anti-vascular endothelial growth factor drugs safety and efficacy in ophthalmic diseases[J]. J Pharmacol Pharmacother, 2013, 4:38-42.
22.	VEGF Inhibition Study in Ocular Neovascularization (V.I.S.I.O.N.) Clinical Trial Group, D'Amico DJ, Masonson HN, et al. Pegaptanib sodium for neovascular age-related macular degeneration:two-year safety results of the two prospective, multicenter, controlled clinical trials[J]. Ophthalmology, 2006, 113:992-1001.
23.	Fleck BW. Management of retinopathy of prematurity[J]. Arch Dis Child Fetal Neonatal Ed, 2013, 98:454-456.
24.	Mintz-Hittner HA, Best LM. Antivascular endothelial growth factor for retinopathy of prematurity[J]. Curr Opin Pediatr, 2009, 21:182-187.
25.	Autrata R, Krejcírová I, Senková K, et al. Intravitreal pegaptanib combined with diode laser therapy for stage 3⁺ retinopathy of prematurity in zone Ⅰ and posterior zone Ⅱ[J]. Eur J Ophthalmol, 2012, 22:687-694.
26.	Uparkar M, Sen P, Rawal A, et al. Laser photocoagulation (810 nm diode) for threshold retinopathy of prematurity:a prospective randomized pilot study of treatment to ridge and avascular retina versus avascular retina alone[J]. Int Ophthalmol, 2011, 31:3-8.
27.	Ray R, Barañano DE, Hubbard GB. Treatment of Coats' disease with intravitreal bevacizumab[J]. Br J Ophthalmol, 2013, 97:272-277.
28.	Ramasubramanian A, Shields CL. Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction[J]. Br J Ophthalmol, 2012, 96:356-359.
29.	He YG, Wang H, Zhao B, et al. Elevated vascular endothelial growth factor level in Coats' disease and possible therapeutic role of bevacizumab[J]. Graefe's Arch Clin Exp Ophthalmol, 2010, 248:1519-1521.
30.	Voelkel NF, Vandivier RW, Tuder RM. Vascular endothelial growth factor in the lung[J]. Am J Physiol Lung Cell Mol Physiol, 2006, 290:209-221.
31.	Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicentre trial for cryotherapy for retinopathy of prematurity:preliminary results[J]. Arch Ophthalmol, 1988, 106:471-479.
32.	STOP-ROP Multicentre Study Group. Supplemental therapeutic oxygen for prethreshold retinopathy of prematurity (STOP-ROP), a randomized, controlled trial Ⅰ:preliminary outcomes[J]. Pediatrics, 2000, 105:295-310.
33.	Good WV, Early Treatment of Retinopathy of Prematurity Cooperative Group. Final results of the Early Treatment of Retinopathy of Prematurity (ETROP) randomized trial[J]. Trans Am Ophthalmol Soc, 2004, 102:233-248.
34.	唐仕波,余洪华,李涛. 努力推动我国玻璃体视网膜手术的创新发展[J]. 中华眼底病杂志, 2012, 28:109-112.
35.	Capone A Jr, Trese MT. Lens-sparing vitreous surgery for tractional stage 4A retinopathy of prematurity retinal detachments[J]. Ophthalmology, 2001, 108:2068-2070.
36.	Kay CN, Quiram PH, Mahajan VB. 23-gauge pediatric vitrectomy using limbus-based trocar-cannulas[J]. Retina, 2012, 32:1023-1027.
37.	Thompson JT. Advantages and limitations of small gauge vitrectomy[J]. Surv Ophthalmol, 2011, 56:162-172.
38.	Azuma N, Ito M, Yokoi T, et al. Visual outcomes after early vitreous surgery for aggressive posterior retinopathy of prematurity[J]. JAMA Ophthalmol, 2013, 131:1309-1313.
39.	Azuma N, Ishikawa K, Hama Y, et al. Early vitreous surgery for aggressive posterior retinopathy of prematurity[J]. Am J Ophthalmol, 2006, 142:636-643.
40.	Xu Y, Zhang Q, Kang X, et al. Early vitreoretinal surgery on vascularly active stage 4 retinopathy of prematurity through the preoperative intravitreal bevacizumab injection[J]. Acta Ophthalmol, 2013, 91:304-310.
41.	Yu H, Li T, Luo Y, et al. Long-term outcomes of vitrectomy for progressive X-linked retinoschisis[J]. Am J Ophthalmol, 2012, 154:394-402.
42.	Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR):clinical profile and management[J]. Indian J Ophthalmol, 2003, 51:323-328.
43.	Fei P, Zhang Q, Li J, et al. Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous[J]. Br J Ophthalmol, 2013, 97:1262-1267.
44.	Muftuoglu G, Gulkilik G. Pars plana vitrectomy in advanced Coats' disease[J]. Case Rep Ophthalmol, 2011, 2:15-22.
45.	Wong SC, Capone A Jr. Microplasmin (ocriplasmin) in pediatric vitreoretinal surgery:update and review[J]. Retina, 2013, 33:339-348.
46.	Ramsden CM, Powner MB, Carr AJ, et al. Stem cells in retinal regeneration:past, present and future[J]. Development, 2013, 140:2576-2585.
47.	Tibbetts MD, Samuel MA, Chang TS, et al. Stem cell therapy for retinal disease[J]. Curr Opin Ophthalmol, 2012, 23:226-234.
48.	李家恺,赵培泉.玻璃体手术治疗晚期早产儿视网膜病变的疗效及影响因素评估[J]. 中华眼底病杂志, 2012, 28:22-25.

1. 赵培泉,费萍. 早产儿视网膜病变诊断治疗研究现状、问题及展望[J].中华眼底病杂志,2012, 28:3-7.
2. Kuhrt H, Gryga M, Wolburg H, et al. Postnatal mammalian retinal development:quantitative data and general rules[J]. Prog Retin Eye Res, 2012, 31:605-621.
3. Ranchod TM, Capone A Jr. Tips and tricks in pediatric vitreoretinal surgery[J]. Int Ophthalmol Clin, 2011, 51:173-183.
4. Lin KL, Hirose T, Kroll AJ, et al. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition[J]. Semin Ophthalmol, 2009, 24:70-76.
5. Kriss A, Jeffrey B, Taylor D. The electroretinogram in infants and young children[J]. J Clin Neurophysiol, 1992, 9:373-393.
6. Hussein MA, Coats DK, Paysse EA. Use of the RetCam 120 for fundus evaluation in uncooperative children[J]. Am J Ophthalmol, 2004, 137:354-355.
7. Young B, Eggenberger E, Kaufman D. Current electrophysiology in ophthalmology:a review[J]. Curr Opin Ophthalmol, 2012, 23:497-505.
8. El-Dairi MA, Asrani SG, Enyedi LB, et al. Optical coherence tomography in the eyes of normal children[J]. Arch Ophthalmol, 2009, 127:50-58.
9. Kang KB, Wessel MM, Tong J, et al. Ultra-widefield imaging for the management of pediatric retinal diseases[J]. J Pediatr Ophthalmol Strabismus, 2013, 50:282-288.
10. Verdina T, Tsang SH, Greenstein VC, et al. Functional analysis of retinal flecks in Stargardt disease[J/OL]. J Clin Exp Ophthalmol, 2012,3:E1[2012-07-30]. http://www.ncbi.nlm.nih.gov/pubmed/24409374.
11. Fakin A, Jarc-Vidmar M, Glavac D, et al. Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2[J]. Vis Res, 2012, 75:60-70.
12. Xu Y, Zhou X, Zhang Q, et al. Screening for retinopathy of prematurity in China:a neonatal units-based prospective study[J]. Invest Ophthalmol Vis Sci, 2013, 54:8229-8236.
13. 许迅. 规范眼底影像检查数据采集、评估行为,提升眼底影像检查诊断技术应用水平[J]. 中华眼底病杂志, 2013, 29:449-452.
14. 张清炯. 加强眼底病基因研究,为防盲致盲作出更大贡献[J]. 中华眼底病杂志, 2011, 27:405-407.
15. 杨文杰,张琦,赵培泉. 家族性渗出性玻璃体视网膜病变致病基因及信号传导途径[J]. 中华眼底病杂志, 2011, 27:497-499.
16. 张勤,张琦,赵培泉. NDP基因相关视网膜病变研究[J]. 临床儿科杂志, 2013, 31:481-483.
17. Al-Saikhan FI. The gene therapy revolution in ophthalmology[J]. Saudi J Ophthalmol, 2013, 27:107-111.
18. Binley K, Widdowson P, Loader J, et al. Transduction of photoreceptors with equine infectious anemia virus vectors:safety and biodistribution of StarGen for Stargardt disease[J]. Invest Ophthalmol Vis, 2013, 54:4061-4071.
19. Pang JJ, Deng WT, Dai X, et al. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia[J/OL]. PLoS One, 2012, 7:E35250[2012-04-11].http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0035250.
20. Hufnagel RB, Ahmed ZM, Corrêa ZM, et al. Gene therapy for Leber congenital amaurosis:advances and future directions[J]. Graefe's Arch Clin Exp Ophthalmol, 2012, 250:1117-1128.
21. Ventrice P, Leporini C, Aloe JF, et al. Anti-vascular endothelial growth factor drugs safety and efficacy in ophthalmic diseases[J]. J Pharmacol Pharmacother, 2013, 4:38-42.
22. VEGF Inhibition Study in Ocular Neovascularization (V.I.S.I.O.N.) Clinical Trial Group, D'Amico DJ, Masonson HN, et al. Pegaptanib sodium for neovascular age-related macular degeneration:two-year safety results of the two prospective, multicenter, controlled clinical trials[J]. Ophthalmology, 2006, 113:992-1001.
23. Fleck BW. Management of retinopathy of prematurity[J]. Arch Dis Child Fetal Neonatal Ed, 2013, 98:454-456.
24. Mintz-Hittner HA, Best LM. Antivascular endothelial growth factor for retinopathy of prematurity[J]. Curr Opin Pediatr, 2009, 21:182-187.
25. Autrata R, Krejcírová I, Senková K, et al. Intravitreal pegaptanib combined with diode laser therapy for stage 3⁺ retinopathy of prematurity in zone Ⅰ and posterior zone Ⅱ[J]. Eur J Ophthalmol, 2012, 22:687-694.
26. Uparkar M, Sen P, Rawal A, et al. Laser photocoagulation (810 nm diode) for threshold retinopathy of prematurity:a prospective randomized pilot study of treatment to ridge and avascular retina versus avascular retina alone[J]. Int Ophthalmol, 2011, 31:3-8.
27. Ray R, Barañano DE, Hubbard GB. Treatment of Coats' disease with intravitreal bevacizumab[J]. Br J Ophthalmol, 2013, 97:272-277.
28. Ramasubramanian A, Shields CL. Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction[J]. Br J Ophthalmol, 2012, 96:356-359.
29. He YG, Wang H, Zhao B, et al. Elevated vascular endothelial growth factor level in Coats' disease and possible therapeutic role of bevacizumab[J]. Graefe's Arch Clin Exp Ophthalmol, 2010, 248:1519-1521.
30. Voelkel NF, Vandivier RW, Tuder RM. Vascular endothelial growth factor in the lung[J]. Am J Physiol Lung Cell Mol Physiol, 2006, 290:209-221.
31. Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicentre trial for cryotherapy for retinopathy of prematurity:preliminary results[J]. Arch Ophthalmol, 1988, 106:471-479.
32. STOP-ROP Multicentre Study Group. Supplemental therapeutic oxygen for prethreshold retinopathy of prematurity (STOP-ROP), a randomized, controlled trial Ⅰ:preliminary outcomes[J]. Pediatrics, 2000, 105:295-310.
33. Good WV, Early Treatment of Retinopathy of Prematurity Cooperative Group. Final results of the Early Treatment of Retinopathy of Prematurity (ETROP) randomized trial[J]. Trans Am Ophthalmol Soc, 2004, 102:233-248.
34. 唐仕波,余洪华,李涛. 努力推动我国玻璃体视网膜手术的创新发展[J]. 中华眼底病杂志, 2012, 28:109-112.
35. Capone A Jr, Trese MT. Lens-sparing vitreous surgery for tractional stage 4A retinopathy of prematurity retinal detachments[J]. Ophthalmology, 2001, 108:2068-2070.
36. Kay CN, Quiram PH, Mahajan VB. 23-gauge pediatric vitrectomy using limbus-based trocar-cannulas[J]. Retina, 2012, 32:1023-1027.
37. Thompson JT. Advantages and limitations of small gauge vitrectomy[J]. Surv Ophthalmol, 2011, 56:162-172.
38. Azuma N, Ito M, Yokoi T, et al. Visual outcomes after early vitreous surgery for aggressive posterior retinopathy of prematurity[J]. JAMA Ophthalmol, 2013, 131:1309-1313.
39. Azuma N, Ishikawa K, Hama Y, et al. Early vitreous surgery for aggressive posterior retinopathy of prematurity[J]. Am J Ophthalmol, 2006, 142:636-643.
40. Xu Y, Zhang Q, Kang X, et al. Early vitreoretinal surgery on vascularly active stage 4 retinopathy of prematurity through the preoperative intravitreal bevacizumab injection[J]. Acta Ophthalmol, 2013, 91:304-310.
41. Yu H, Li T, Luo Y, et al. Long-term outcomes of vitrectomy for progressive X-linked retinoschisis[J]. Am J Ophthalmol, 2012, 154:394-402.
42. Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR):clinical profile and management[J]. Indian J Ophthalmol, 2003, 51:323-328.
43. Fei P, Zhang Q, Li J, et al. Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous[J]. Br J Ophthalmol, 2013, 97:1262-1267.
44. Muftuoglu G, Gulkilik G. Pars plana vitrectomy in advanced Coats' disease[J]. Case Rep Ophthalmol, 2011, 2:15-22.
45. Wong SC, Capone A Jr. Microplasmin (ocriplasmin) in pediatric vitreoretinal surgery:update and review[J]. Retina, 2013, 33:339-348.
46. Ramsden CM, Powner MB, Carr AJ, et al. Stem cells in retinal regeneration:past, present and future[J]. Development, 2013, 140:2576-2585.
47. Tibbetts MD, Samuel MA, Chang TS, et al. Stem cell therapy for retinal disease[J]. Curr Opin Ophthalmol, 2012, 23:226-234.
48. 李家恺,赵培泉.玻璃体手术治疗晚期早产儿视网膜病变的疗效及影响因素评估[J]. 中华眼底病杂志, 2012, 28:22-25.

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Chinese Journal of Ocular Fundus Diseases

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