469
Views
4
CrossRef citations to date
0
Altmetric
Research Reports

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations

, , &
Pages 615-618 | Received 27 May 2018, Accepted 29 Jul 2018, Published online: 21 Aug 2018

References

  • Apsey C, Bohnsack BL. Association of infantile-onset glaucoma with collagen disorders. J Rare Dis Res & Treatment. 2016;1(3):5–9. doi:10.29245/2572-9411/2016/3.1049.
  • Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology. 2014 Aug;121(8):1588–97. doi:10.1016/j.ophtha.2014.02.022.
  • Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead, MP. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat. 2006 Jul;27(7):696–704. doi:10.1002/humu.20347.
  • Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, et al. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat. 2010 Jun;31(6):E1461–1471. doi:10.1002/humu.21257.
  • Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87–89. doi:10.1038/ng0995-87.
  • 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 Auckl NZ. 2016;10:1–6.
  • Shenoy BH, Mandal AK. Stickler syndrome associated with congenital glaucoma. Lancet Lond Engl. 2013 Feb 2;381(9864):422. doi:10.1016/S0140-6736(12)61813-3.
  • Ziakas NG, Ramsay AS, Lynch SA, Clarke MP. Stickler’s syndrome associated with congenital glaucoma. Ophthalmic Genet. 1998 Mar;19(1):55–58. doi:10.1076/opge.19.1.55.2177.
  • Abeysiri P, Bunce C, Da Cruz L. Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. Graefes Arch Clin Exp Ophthalmol Albrecht Von Graefes Arch Klin Exp Ophthalmol. 2007 Nov;245(11):1633–38. doi:10.1007/s00417-007-0609-2.
  • Reddy DN, Yonekawa Y, Thomas BJ, Nudleman ED, Williams GA. Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. Clin Ophthalmol Auckl NZ. 2016;10:1531–34. doi:10.2147/OPTH.S111526.
  • Read SP, Aziz HA, Kuriyan A, Kothari N, Davis JL, Smiddy WE, Flynn HW Jr, Murray TG, Berrocal A. Retinal detachment surgery in a pediatric population: visual and anatomic outcomes. Retina 2018 Jul;38(7):1393–1402.
  • Snead MP, Yates JR. Clinical and molecular genetics of stickler syndrome. J Med Genet. 1999 May;36(5):353–59.
  • Kennedy RH. Progression of myopia. Trans Am Ophthalmol Soc. 1995;93:755–800.
  • Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet EJHG. 2010 Aug;18(8):872–80. doi:10.1038/ejhg.2009.163.
  • Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology. 2008 Jan;115(1):164–68. doi:10.1016/j.ophtha.2007.03.059.
  • Carroll C, Papaioannou D, Rees A, 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 Winch Engl. 2011 Apr;15(16):iii–xiv, 1–62.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.