178
Views
1
CrossRef citations to date
0
Altmetric
Case Reports

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation

ORCID Icon, , ORCID Icon, &
Pages 365-368 | Received 09 Apr 2019, Accepted 10 Aug 2019, Published online: 22 Aug 2019

References

  • Curtin BJ. The posterior staphyloma of pathologic myopia. Trans Am Ophthalmol Soc. 1977;75:67–86.
  • Ohno-Matsui K. Proposed classification of posterior staphylomas based on analyses of eye shape by three-dimensional magnetic resonance imaging and wide-field fundus imaging. Ophthalmology. 2014; 121(9):1798–809. doi:10.1016/j.ophtha.2014.03.035.
  • Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ. C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br J Ophthalmol. 2015; 99(12):1725–31. doi:10.1136/bjophthalmol-2015-307277.
  • Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT. et al. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Br J Ophthalmol. 2003;87(2):197–202. doi:10.1136/bjo.87.2.197.
  • Zhukovsky EA, Robinson PR, Oprian DD. Transducin activation by rhodopsin without a covalent bond to the 11-cis-retinal chromophore. Science. 1991;251(4993):558–60. doi:10.1126/science.1990431.
  • Keen TJ, Inglehearn CF, Lester DH, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 1991;11(1):199–205.
  • Bird AC. Investigation of disease mechanisms in retinitis pigmentosa. Ophthalmic Paediatr Genet. 1992;13(2):57–66. doi:10.3109/13816819209087605.
  • Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010;51(7):3687–700. doi:10.1167/iovs.09-4766.
  • Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD. Constitutively active mutants of rhodopsin. Neuron. 1992;9(4):719–25. doi:10.1016/0896-6273(92)90034-B.
  • Toma C, Ruberto G, Marzi F, Vandelli G, Signorini S, Valente EM, Antonini M, Bertone C, Bianchi PE. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. Documenta Ophthalmologica. 2018;137(1):25–36. doi:10.1007/s10633-018-9646-x.
  • Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC. Evidence of genetic heterogeneity in MRCS (Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. Am J Ophthalmol. 2006;141(2):418–20. doi:10.1016/j.ajo.2005.09.018.
  • Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K. Posterior staphylomas in eyes with retinitis pigmentosa without high myopia. Retina. 2018 April 1. doi:10.1097/IAE.0000000000002180.
  • Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Longitudinal clinical course of three Japanese patients with leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. Doc Ophthalmol. 2014;128(3):219–28. doi:10.1007/s10633-014-9436-z.

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.