Abstract

Stickler syndrome is an inherited disorder of the collagen connective tissues with ophthalmic, orofacial, auditory, and articular manifestations. The risk of retinal detachment in Stickler syndrome is very high, and it is considered to be the most common cause of retinal detachment in children. Repair of retinal detachment in Stickler syndrome is challenging with variability in surgical and visual outcomes. Early diagnosis, close follow up and prompt intervention is necessary to prevent serious complication of retinal detachment and visual loss. Here we are reviewing the retinal detachment in Stickler syndrome, surgical outcomes and prognosis.

Keywords: Stickler syndrome · Retinal detachment in Stickler syndrome · Prognosis of Stickler retinal detachment

References

  1. 1.Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965;40:433–55
  2. 2.Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999 May;36(5):353-9. 162 Majmaah Journal of Health Sciences ,Vol. 8, Issue 2, May - 2020 , Ramadan - 1441 Retinal detachment in Stickler syndrome:Areview of surgical outcomes and prognosis.
  3. 3.Carroll C, Papaioannou D, ReesA, Kaltenthaler E. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. Health Technol Assess. 2011 Apr;15(16):iii-xiv,1-62. doi: 10.3310/hta15160. doi:10.3310/hta15160
  4. 4.Vandenberg P. Molecular basis of heritable connective tissue disease. Bioche Med Metabol Biol 1993 Feb;49(1):1-12.
  5. 5.Snead MP, Mcninch AM, Poulson AV, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond) 2011;25(11):1389–1400.
  6. 6.Richards AJ, McNinch A, Martin H, et al. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257. doi:10.1002/humu.21257
  7. 7.Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JL, et al. Stop codon in the procollagen gene (CO- L2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA. 1991;88:6624–6627.
  8. 8.Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr. 1998;132:368–371.
  9. 9.Van Camp G, Snoeckx RL, Hilgert N, van denEndeJ,FukuokaH,WagatsumaM,etal.A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.Am J Hum Genet. 2006;79:449–457.
  10. 10.Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, et al. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. Am J Med Genet A. 2011;155 (7:1668–1672.
  11. 11.RichardsAJ, Martin S, Yates JRW, Baguley DM, Pope FM, Scott JD, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol. 2000;84:364–371.
  12. 12.Goyal M , Kapoor S , Ikegawa S , Nishimura G. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. Case Rep Pediatr. 2016;2016:3198597. doi: 10.1155/2016/3198597. Epub 2016 Nov 28. doi:10.1155/2016/3198597
  13. 13.Ahmad NN, McDonald-McGinn DM, Dixon P, Zackai EH, Tasman WS. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. J Med Genet. 1996 Aug; 33(8): 678–681.
  14. 14.Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH. et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. 1995;80(3):431–437.
  15. 15.Robin NH, Moran RT, Warman M, Ala-Kokko L. Stickler syndrome. In: Pagon RA, Adam MP, Bird TD, et al, eds. GeneR- eviews [database online]. Seattle: University of Washington, Seattle; Updated November 3, 2011.
  16. 16.Parma ES, Korkko J, Hagler WS, Ala-Kokko L. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol. 2002;134(5):728–734. Majmaah Journal of Health Sciences ,Vol. 8, Issue 2, May - 2020 , Ramadan - 1441 163 Retinal detachment in Stickler syndrome:Areview of surgical outcomes and prognosis.
  17. 17.Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med. 2001;3:192–196. [18]BowlingEL,BrownMD,TrundleTV.The Stickler syndrome: case reports and literature review. Optometry. 2000 Mar;71(3):177-82.
  18. 18.Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet. 2005;138A (3:199–207.
  19. 19.Rose PS, Ahn NU, Levy HP, Ahn UM, Davis J, Liberfarb RM, et al. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 2001;26:403–409.
  20. 20.Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology. 2008;115:164–168.
  21. 21.Donoso LA, Edwards AO, Frost AT, et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family. Am J Ophthalmol 2002;134:720–7.
  22. 22.Poulson AV, Hooymans J, Richards AJ, Bearcroft P, Murthy R, Baguley D, et al. Clinical features of Type 2 Stickler syndrome .J Med Genet 200441e107.
  23. 23.Shuler M, Sullivan J, Hurley B, McNamara J. Pediatric Retina. 2011 ed. London: Springer Berlin Heidelberg; 2011. Vitreoretinal dystrophies; pp. 315–319. Kresge Reference Library. Web. 23 May 2015.
  24. 24.Alshahrani ST, Ghazi NG, Al-Rashaed S. Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. Clin Ophthalmol. 2016;10:1–6.
  25. 25.Snead MP. Hereditary vitreoretinopathy. Eye(1996) 10:653–663.
  26. 26.Reddy DN, Yonekawa Y, Thomas BJ, Nudleman ED, Williams GA. Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. Clin Ophthalmol. 2016; 10: 1531–1534.
  27. 27.Sadaka A, Giuliari GP. Proliferative vitreoretinopathy: current and emerging treatments. Clin Ophthalmol. 2012; 6: 1325–1333. [29]PastorJC.Proliferativevitreoretinopathy: anoverview.SurvOphthalmol.1998;43(1):318. [30]AbeysiriP,BunceC,daCruzL.Outcomes of surgery for retinal detachment in patients with stickler syndrome: a comparison of two sequential 20-year cohorts. Graefes Arch Clin Exp Ophthalmol. 2007;245(11):1633–1638.
  28. 28.Pagot-Mathis V, Benouaich X, Mathis A, Rico-Lattes I, Dumoulin A. Management of complicated retinal detachment using a heavy silicone oil as temporary tamponade. J Fr Ophthalmol. 2006;29(2):137–145
  29. 29.Billington BM, Leaver PK, McLeod D. Management of the retinal detachment in the Wagner–Stickler syndrome. Trans Ophthalmol Soc UK. 1985;104(Pt 8):875–879.
  30. 30.Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology. 2014;121(8):1588–1597.

Peer review

Peer reviewed by 2 reviewers, who chose to remain anonymous.

Majmaah Journal of Health Sciences · eISSN 1658-8223 · Majmaah University · open access