290
Views
22
CrossRef citations to date
0
Altmetric
Case Reports

Peripapillary sparing in RDH12-associated Leber congenital amaurosis

, , , , &
Pages 575-579 | Received 29 Dec 2016, Accepted 16 Apr 2017, Published online: 17 May 2017

References

  • Perrault I, Hanein S, Gerber S, et al. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am J Hum Genet 2004;75:639–646.
  • Wang X, Wang H, Sun V, et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet 2013;50:674–688.
  • Wang S, Zhang Q, Zhang X, et al. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. Graefes Arch Clin Exp Ophthalmol 2016;254(11):2227–38.
  • Srilekha S, Arokiasamy T, Srikrupa NN, et al. Homozygosity mapping in Leber congenital amaurosis and autosomal recessive retinitis pigmentosa in South Indian families. Plos One 2015;10:e0131679.
  • McCulloch DL, Marmor MF, Brigell MG, et al. ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 2015;130:1–12.
  • Sujirakul T, Davis R, Erol D, et al. Bilateral concordance of the fundus hyperautofluorescent ring in typical retinitis pigmentosa patients. Ophthalmic Genet 2015;36:113–122.
  • Cideciyan AV, Swider M, Aleman TS, et al. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci 2005;46:4739–4746.
  • Burke TR, Rhee DW, Smith RT, et al. Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1). Invest Ophthalmol Vis Sci 2011;52:8006–8015.
  • Jacobson SG, Cideciyan AV, Aleman TS, et al. RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci 2007;48:332–338.
  • Valverde D, Pereiro I, Vallespin E, et al. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. Invest Ophthalmol Vis Sci 2009;50:1065–1068.
  • Thompson DA, Janecke AR, Lange J, et al. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet 2005;14:3865–3875.
  • Duncker T, Tsang SH, Woods RL, et al. Quantitative fundus autofluorescence and optical coherence tomography in PRPH2/RDS- and ABCA4-associated disease exhibiting phenotypic overlap. Invest Ophthalmol Vis Sci 2015;56:3159–3170.
  • Piccolino FC, Calabria G, Polizzi A, et al. Pigmentary retinal dystrophy associated with pigmentary glaucoma. Graefe’s Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie 1989;227:335–339.
  • Scholl HP, Chong NH, Robson AG, et al. Fundus autofluorescence in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2004;45:2747–2752.
  • Mackay DS, Dev Borman A, Moradi P, et al. RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis 2011;17:2706–2716.
  • Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 2000;67:487–491.
  • Zhang R, Wang LY, Wang YF, et al. Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. Gene 2015;567:51–57.
  • Guymer RH, Heon E, Lotery AJ, et al. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 2001;119:745–751.

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.