Coats disease-like retinopathy and inherited metabolic disorders or syndromes_Chinese Journal of Ocular Fundus Diseases

Authors：

ZhangJuan ,  HuangXin

Department of Ophthalmology, EYE & ENT Hospital, Fudan University, Shanghai 200031, China;

Corresponding author：

HuangXin, Email: huangxin2007@aliyun.com

Keywords：

Retinal telangiectasis; Genetic diseases, inborn; Review

DOI：

10.3760/cma.j.issn.1005-1015.2017.01.030

Video：

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Coats disease is a relatively rare and idiopathic disorder characterized by retinal telangiectasia and massive intra-retinal and (or) sub-retinal lipid accumulation, resulting in complications including retinal detachment and neovascular glaucoma. Previous reports have revealed that Coats disease can be associated with other disorders, especially some inherited diseases, such as retinitis pigmentosa (RP) and facioscapulohumeral muscular dystrophy (FSHD). Coats disease associated with other inherited disorders is generally called Coats-like retinopathy, which has some unique features that differs from the classic Coats disease, for example there is no sex and age preference, more bilateral cases, more severe cases and more genetic factors involved. Patients of Coats-like retinopathy with RP and FSHD may have mutations in Crumbs homologue gene 1 and D4Z4 genes.

Citation： ZhangJuan, HuangXin. Coats disease-like retinopathy and inherited metabolic disorders or syndromes. Chinese Journal of Ocular Fundus Diseases, 2017, 33(1): 93-96. doi: 10.3760/cma.j.issn.1005-1015.2017.01.030 Copy

1.	Sigler EJ, Randolph JC, Calzada JI, et al. Current management of Coats disease[J]. Surv Ophthalmol, 2014, 59(1): 30-46. DOI: 10.1016/j.survophthal.2013.03.007.
2.	Reichstein DA, Recchia FM. Coats disease and exudative retinopathy[J]. Int Ophthalmol Clin, 2011, 51(1): 93-112. DOI: 10.1097/IIO.0b013e318200de51.
3.	Morris B, Foot B, Mulvihill A. A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis[J]. Eye (Lond), 2010, 24(12): 1797-1801. DOI: 10.1038/eye.2010.126.
4.	Muletarow J, Paditz E, Petersen H, et al. Coats' disease in conjunction with other disorders[J]. Monatsschrift Kinderheilkunde, 2004, 152(4): 403-412. DOI: 10.1007/s00112-003-0724-z.
5.	Jonas JB, Holbach LM. Clinical-pathologic correlation in Coats' disease[J]. Graefe's Arch Clin Exp Ophthalmol, 2001, 239(7): 544-545.
6.	Kremer I, Nissenkorn I, Ben-Sira I. Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease[J]. Acta Ophthalmol (Copenh), 1989, 67(3): 342-346.
7.	Tripathi R, Ashton N. Electron microscopical study of Coat's disease[J]. Br J Ophthalmol, 1971, 55(5): 289-301.
8.	Suh DW, Pulido JS, Jampol LM, et al. Coats'-like response in pars planitis[J]. Retina, 1999, 19(1): 79-80.
9.	George MK, Bernardino CR, Huang JJ. Coats-like response in linear en coup de sabre scleroderma[J]. Retin Cases Brief Rep, 2011, 5(4): 275-278. DOI: 10.1097/ICB.0b013e3181f66a04.
10.	Patil L, Lotery AJ. Coat's-like exudation in rhodopsin retinitis pigmentosa: successful treatment with an intravitreal dexamethasone implant[J]. Eye, 2014, 28(4): 449-451. DOI: 10.1038/eye.2013.314.
11.	Demirci FY, Rigatti BW, Mah TS, et al. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy[J]. Am J Ophthalmol, 2006, 141(1): 208-210.
12.	Khan JA, Ide CH, Strickland MP. Coats'-type retinitis pigmentosa[J]. Surv Ophthalmol, 1988, 32(5): 317-332.
13.	姜德, 陈鑫, 何晓静. Coats病合并视网膜色素变性1例[J]. 新疆医科大学学报, 2005, 28(10): 1006. DOI: 10.3969/j.issn.1009-5551.2005.10.048.Jiang D, Chen X, He XJ. One case of retinitis pigmentosa and Coats' disease[J]. Journal of Xinjiang Medical University, 2005, 28(10): 1006. DOI: 10.3969/j.issn.1009-5551.2005.10.048.
14.	肖骏, 崔极哲, 张小利, 等. 视网膜色素变性合并Coats综合征1例[J]. 国际眼科杂志, 2008, 8(6): 1290-1291.Xiao J, Cui JZ, Zhang XL, et al. One case of retinitis pigmentosa and Coats' syndrome[J]. Int Eye Sci, 2008, 8(6): 1290-1291.
15.	Singh AD, Shields CL, Shields JA, et al. Bilateral exudative retinopathy as the initial manifestation of retinitis pigmentosa[J]. Br J Ophthalmol, 2002, 86(1): 116-117.
16.	Kim RY, Kearney JJ. Coats-type retinitis pigmentosa in a 4-year-old child[J]. Am J Ophthalmol, 1997, 124(6): 846-848.
17.	黄厚斌, 张卯年, 马志中. 视网膜色素变性并发Coats病一例[J]. 中华眼底病杂志, 2003, 19(5): 321-322.Huang HB, Zhang MN, Ma ZZ. One case of retinitis pigmentosa and Coats' disease[J]. Chin J Ocul Fundus Dis, 2003, 19(5): 321-322.
18.	den Hollander AI, Davis J, van der Velde-Visser SD, et al. CRB1 mutation spectrum in inherited retinal dystrophies[J]. Hum Mutat, 2004, 24(5): 355-369.
19.	den Hollander AI, Heckenlively JR, van den Born LI, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene[J]. Am J Hum Genet, 2001, 69(1): 198-203.
20.	Bindoff LA, Mjellem N, Sommerfelt K, et al. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation[J]. Neuromuscul Disord, 2006, 16(9-10): 559-563.
21.	Ganesh A, Kaliki S, Shields CL. Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy[J]. J AAPOS, 2012, 16(2): 204-206. DOI: 10.1016/j.jaapos.2011.11.005.
22.	Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications[J]. Brain, 1987, 110 (Pt 3): 631-648.
23.	Fitzsimons RB. Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?[J]. Neuromuscul Disord, 2011, 21(4): 263-271. DOI: 10.1016/j.nmd.2011.02.002.
24.	Statland JM, Sacconi S, Farmakidis C, et al. Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size[J]. Neurology, 2013, 80(13): 1247-1250. DOI: 10.1212/WNL.0b013e3182897116.
25.	Sato T, Mimura M, Sugiyama T, et al. Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy[J]. Retin Cases Brief Rep, 2007, 1(3): 172-174.
26.	Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations[J]. J Chronic Dis, 1983, 36(8): 595-603.
27.	Kiratli H, Ozturkmen C. Coats-like lesions in Usher syndrome type Ⅱ[J]. Graefe's Arch Clin Exp Ophthalmol, 2004, 242(3): 265-267.
28.	Mathur P, Yang J. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities[J]. Biochim Biophys Acta, 2015, 1852(3): 406-420. DOI: 10.1016/j.bbadis.2014.11.020.
29.	Oyama T, Usui T, Hasebe H, et al. Two cases of Senior-Loken syndrome[J]. Nippon Ganka Gakkai Zasshi, 2004, 108(1): 29-37.
30.	Schuman JS, Lieberman KV, Friedman AH, et al. Senior-loken syndrome (familial renal-retinal dystrophy) and Coats' disease[J]. Am J Ophthalmol, 1985, 100(6): 822-827.
31.	Cameron JD, Yanoff M, Frayer WC. Coats' disease and turner's syndrome[J]. Am J Ophthalmol, 1974, 78(5): 852-854.
32.	Alvarez-Satta M, Castro-Sanchez S, Valverde D. Alstrom syndrome: current perspectives[J]. Appl Clin Genet, 2015, 8: 171-179. DOI: 10.2147/TACG.S56612.
33.	Anandan M, Porter NJ, Nemeth AH, et al. Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)[J]. Ophthalmic Genet, 2005, 26(4): 181-183.
34.	Haritoglou C, Schmidt H, Rudolph G, et al. Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia[J]. Retina, 2003, 23(4): 549-552.
35.	Lueder GT. Clinical ocular abnormalities in infants with trisomy 13[J]. Am J Ophthalmol, 2006, 141(6): 1057-1060.
36.	Stacey AW, Sparagna C, Borri M, et al. A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature[J]. J AAPOS, 2015, 19(5): 474-478. DOI: 10.1016/j.jaapos.2015.03.023.
37.	Desai RU, Saffra NA, Krishna RP, et al. Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma[J/OL]. J Pediatr Ophthalmol Strabismus, 2011, 48: 1-3[2010-05-28]. http://www.diseasein fosearch.org/result/1696. DOI: 10.3928/01913913-20100318-01.
38.	Burch JV, Leveille AS, Morse PH. Ichthyosis hystrix (epidermal nevus syndrome) and Coats' disease[J]. Am J Ophthalmol, 1980, 89(1): 25-30.
39.	Black GC, Perveen R, Bonshek R, et al. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis[J]. Hum Mol Genet, 1999, 8(11): 2031-2035.

1. Sigler EJ, Randolph JC, Calzada JI, et al. Current management of Coats disease[J]. Surv Ophthalmol, 2014, 59(1): 30-46. DOI: 10.1016/j.survophthal.2013.03.007.
2. Reichstein DA, Recchia FM. Coats disease and exudative retinopathy[J]. Int Ophthalmol Clin, 2011, 51(1): 93-112. DOI: 10.1097/IIO.0b013e318200de51.
3. Morris B, Foot B, Mulvihill A. A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis[J]. Eye (Lond), 2010, 24(12): 1797-1801. DOI: 10.1038/eye.2010.126.
4. Muletarow J, Paditz E, Petersen H, et al. Coats' disease in conjunction with other disorders[J]. Monatsschrift Kinderheilkunde, 2004, 152(4): 403-412. DOI: 10.1007/s00112-003-0724-z.
5. Jonas JB, Holbach LM. Clinical-pathologic correlation in Coats' disease[J]. Graefe's Arch Clin Exp Ophthalmol, 2001, 239(7): 544-545.
6. Kremer I, Nissenkorn I, Ben-Sira I. Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease[J]. Acta Ophthalmol (Copenh), 1989, 67(3): 342-346.
7. Tripathi R, Ashton N. Electron microscopical study of Coat's disease[J]. Br J Ophthalmol, 1971, 55(5): 289-301.
8. Suh DW, Pulido JS, Jampol LM, et al. Coats'-like response in pars planitis[J]. Retina, 1999, 19(1): 79-80.
9. George MK, Bernardino CR, Huang JJ. Coats-like response in linear en coup de sabre scleroderma[J]. Retin Cases Brief Rep, 2011, 5(4): 275-278. DOI: 10.1097/ICB.0b013e3181f66a04.
10. Patil L, Lotery AJ. Coat's-like exudation in rhodopsin retinitis pigmentosa: successful treatment with an intravitreal dexamethasone implant[J]. Eye, 2014, 28(4): 449-451. DOI: 10.1038/eye.2013.314.
11. Demirci FY, Rigatti BW, Mah TS, et al. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy[J]. Am J Ophthalmol, 2006, 141(1): 208-210.
12. Khan JA, Ide CH, Strickland MP. Coats'-type retinitis pigmentosa[J]. Surv Ophthalmol, 1988, 32(5): 317-332.
13. 姜德, 陈鑫, 何晓静. Coats病合并视网膜色素变性1例[J]. 新疆医科大学学报, 2005, 28(10): 1006. DOI: 10.3969/j.issn.1009-5551.2005.10.048.Jiang D, Chen X, He XJ. One case of retinitis pigmentosa and Coats' disease[J]. Journal of Xinjiang Medical University, 2005, 28(10): 1006. DOI: 10.3969/j.issn.1009-5551.2005.10.048.
14. 肖骏, 崔极哲, 张小利, 等. 视网膜色素变性合并Coats综合征1例[J]. 国际眼科杂志, 2008, 8(6): 1290-1291.Xiao J, Cui JZ, Zhang XL, et al. One case of retinitis pigmentosa and Coats' syndrome[J]. Int Eye Sci, 2008, 8(6): 1290-1291.
15. Singh AD, Shields CL, Shields JA, et al. Bilateral exudative retinopathy as the initial manifestation of retinitis pigmentosa[J]. Br J Ophthalmol, 2002, 86(1): 116-117.
16. Kim RY, Kearney JJ. Coats-type retinitis pigmentosa in a 4-year-old child[J]. Am J Ophthalmol, 1997, 124(6): 846-848.
17. 黄厚斌, 张卯年, 马志中. 视网膜色素变性并发Coats病一例[J]. 中华眼底病杂志, 2003, 19(5): 321-322.Huang HB, Zhang MN, Ma ZZ. One case of retinitis pigmentosa and Coats' disease[J]. Chin J Ocul Fundus Dis, 2003, 19(5): 321-322.
18. den Hollander AI, Davis J, van der Velde-Visser SD, et al. CRB1 mutation spectrum in inherited retinal dystrophies[J]. Hum Mutat, 2004, 24(5): 355-369.
19. den Hollander AI, Heckenlively JR, van den Born LI, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene[J]. Am J Hum Genet, 2001, 69(1): 198-203.
20. Bindoff LA, Mjellem N, Sommerfelt K, et al. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation[J]. Neuromuscul Disord, 2006, 16(9-10): 559-563.
21. Ganesh A, Kaliki S, Shields CL. Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy[J]. J AAPOS, 2012, 16(2): 204-206. DOI: 10.1016/j.jaapos.2011.11.005.
22. Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications[J]. Brain, 1987, 110 (Pt 3): 631-648.
23. Fitzsimons RB. Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?[J]. Neuromuscul Disord, 2011, 21(4): 263-271. DOI: 10.1016/j.nmd.2011.02.002.
24. Statland JM, Sacconi S, Farmakidis C, et al. Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size[J]. Neurology, 2013, 80(13): 1247-1250. DOI: 10.1212/WNL.0b013e3182897116.
25. Sato T, Mimura M, Sugiyama T, et al. Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy[J]. Retin Cases Brief Rep, 2007, 1(3): 172-174.
26. Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations[J]. J Chronic Dis, 1983, 36(8): 595-603.
27. Kiratli H, Ozturkmen C. Coats-like lesions in Usher syndrome type Ⅱ[J]. Graefe's Arch Clin Exp Ophthalmol, 2004, 242(3): 265-267.
28. Mathur P, Yang J. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities[J]. Biochim Biophys Acta, 2015, 1852(3): 406-420. DOI: 10.1016/j.bbadis.2014.11.020.
29. Oyama T, Usui T, Hasebe H, et al. Two cases of Senior-Loken syndrome[J]. Nippon Ganka Gakkai Zasshi, 2004, 108(1): 29-37.
30. Schuman JS, Lieberman KV, Friedman AH, et al. Senior-loken syndrome (familial renal-retinal dystrophy) and Coats' disease[J]. Am J Ophthalmol, 1985, 100(6): 822-827.
31. Cameron JD, Yanoff M, Frayer WC. Coats' disease and turner's syndrome[J]. Am J Ophthalmol, 1974, 78(5): 852-854.
32. Alvarez-Satta M, Castro-Sanchez S, Valverde D. Alstrom syndrome: current perspectives[J]. Appl Clin Genet, 2015, 8: 171-179. DOI: 10.2147/TACG.S56612.
33. Anandan M, Porter NJ, Nemeth AH, et al. Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)[J]. Ophthalmic Genet, 2005, 26(4): 181-183.
34. Haritoglou C, Schmidt H, Rudolph G, et al. Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia[J]. Retina, 2003, 23(4): 549-552.
35. Lueder GT. Clinical ocular abnormalities in infants with trisomy 13[J]. Am J Ophthalmol, 2006, 141(6): 1057-1060.
36. Stacey AW, Sparagna C, Borri M, et al. A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature[J]. J AAPOS, 2015, 19(5): 474-478. DOI: 10.1016/j.jaapos.2015.03.023.
37. Desai RU, Saffra NA, Krishna RP, et al. Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma[J/OL]. J Pediatr Ophthalmol Strabismus, 2011, 48: 1-3[2010-05-28]. http://www.diseasein fosearch.org/result/1696. DOI: 10.3928/01913913-20100318-01.
38. Burch JV, Leveille AS, Morse PH. Ichthyosis hystrix (epidermal nevus syndrome) and Coats' disease[J]. Am J Ophthalmol, 1980, 89(1): 25-30.
39. Black GC, Perveen R, Bonshek R, et al. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis[J]. Hum Mol Genet, 1999, 8(11): 2031-2035.

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