236
Views
7
CrossRef citations to date
0
Altmetric
Case Reports

Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation

, , &
Pages 69-74 | Received 02 Apr 2012, Accepted 03 Jun 2012, Published online: 11 Jul 2012

REFERENCES

  • Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997;115:95–99.
  • Barbet F, Hakiki S, Orssaud C, et al. A third locus for dominant optic atrophy on chromosome 22q. J Med Genet 2005;42:e1.
  • Kerrison JB, Koenekoop RK, Arnould VJ, Zee D, Maumenee IH. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12. Am J Ophthalmol 1998;125:64–70.
  • Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA. Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood? Ophthalmic Genet 2010 Mar;31(1):44–46.
  • Man PYW, Griffiths PG, Brown TD, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003;72:333–239.
  • Lyle WM. Genetic Risk. Waterloo: University of Waterloo Press, 1990.
  • Gallus G, Cardaioli E, Rufa A, et al. High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. Clin Genet 2011 Jul 11. doi: 10.1111/j.1399-0004.2011.01751.x. [Epub ahead of print]
  • Amati-Bonneau P, Milea D, Bonneau D, et al. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009 Oct;41 (10):1855–1865.
  • Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004;23:53–89.
  • Johnston PB, Gaster RN, Smith VC, Tripathi RC. A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 1979;88:868–875.
  • Ito Y, Nakamura M, Yamakoshi T, Lin J, Yatsuya H, Terasaki H. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. Invest Ophthalmol Vis Sci 2007 Sep;48(9):4079–4086.
  • Gränse L, Bergstrand I, Thiselton D, et al. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene. Ophthalmic Genet 2003 Dec;24(4):233–245.
  • Holder GE, Votruba M, Carter AC, et al. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Doc Ophthalmol 1999;95:217–28.
  • Votruba M, Thiselton D, Bhattacharya SS. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 2003 Jan;87(1):48–53.
  • Toomes C, Marchbank NJ, Mackey DA, et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 2001;10:1369–1378.
  • Cohn AC, Toomes C, Potter C, et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 2007;143:656–662.
  • Kjer P, Jensen OA, Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh) 1983;61:300–312.
  • Johnston PB, Gaster RN, Smith VC, Tripathi RC. A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 1979;88:868–875.
  • Barboni P, Savini G, Parisi V, et al. Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age. Ophthalmology 2011 Oct;118(10):2076–2080.
  • Votruba M, Moore AT, Bhattacharya SS. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet 1998;35:793–800.
  • Barboni P, Savini G, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathy. Ophthalmology 2005;112:120–126.
  • Budenz DL, Anderson DR, Varma R, et al. Determinants of normal retinal nerve fiber layer thickness measured by Stratus OCT. Ophthalmology 2007;114:1046–1052.
  • Parikh RS, Parikh SR, Sekhar GC, et al. Normal age-related decay of retinal nerve fiber layer thickness. Ophthalmology 2007;114:921–926.
  • Aijaz S, Erskine L, Jeffery G, et al. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 2004;45:1667–1673.
  • Pesch UE, Fries JE, Bette S, et al. OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Vis Sci 2004;45:4217–4225.
  • Fournier AV, Damji KF, Epstein DL, et al. Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma. Ophthalmology 2001;108:1595–1602.

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.