Advanced search
Publication Cover
Ophthalmic Genetics Volume 41, 2020 - Issue 1
Submit an article Journal homepage
123
Views
2
CrossRef citations to date
0
Altmetric
Case Reports

Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis

Funda Dikkayaa Department of Ophthalmology, School of Medicine, Istanbul Medipol University, Istanbul, TurkeyCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-2312-2521
ORCID Icon,
Serhat Seyhanb Department of Medical Genetic, School of Medicine, Istanbul Medipol University, Istanbul, Turkey
,
Sevil Karaman Erdura Department of Ophthalmology, School of Medicine, Istanbul Medipol University, Istanbul, Turkey
,
Fevzi Şentürka Department of Ophthalmology, School of Medicine, Istanbul Medipol University, Istanbul, Turkey
&
Cengiz Arasa Department of Ophthalmology, School of Medicine, Istanbul Medipol University, Istanbul, Turkey
Pages 79-82 | Received 19 Dec 2019, Accepted 09 Feb 2020, Published online: 21 Feb 2020

References

  • Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Leber congenital amaurosis. Mol Genet Metab. 1999;68(2):200–08. doi:10.1006/mgme.1999.2906. Cited in PubMed; PMID: 10527670.
  • Mizuno K, Takei Y, Sears ML, Peterson WS, Carr RE, Jampol LM. Leber’s congenital amaurosis. Am J Ophthalmol. 1977;83(1):32–42. doi:10.1016/0002-9394(77)90188-x. Cited in PubMed; PMID:835664.
  • Chew E, Deutman A, Pinckers A, Aan de Kerk A. Yellowish flecks in Leber’s congenital amaurosis. Br J Ophthalmol. 1984;68(10):727–31. doi:10.1136/bjo.68.10.727. Cited in PubMed; PMID:6477853.
  • Margolis S, Scher BM, Carr RE. Macular colobomas in Leber’s congenital amaurosis. Am J Ophthalmol. 1977;83(1):27–31. doi:10.1016/0002-9394(77)90187-8. Cited in PubMed; PMID: 8356663.
  • Elder MJ. Leber congenital amaurosis and its association with keratoconus and keratoglobus. J Pediatr Ophthalmol Strabismus. 1994;31(1):38–40. Cited in PubMed; PMID:8195961.
  • Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol. 2004;49(4):379–98. doi:10.1016/j.survophthal.2004.04.003. Cited in PubMed; PMID: 15231395.
  • Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: lxiv Edward Jackson memorial lecture. Am J Ophthalmol. 2007;144(6):791–811. doi:10.1016/j.ajo.2007.08.022. Cited in PubMed; PMID:17964524.
  • Coussa RG, Lopez Solache I, Koenekoop RK. Leber congenital amaurosis, from darkness to light: an ode to Irene Maumenee. Ophthalmic Genet. 2017;38(1):7–15. doi:10.1080/13816810.2016.1275021. Cited in Pubmed; PMID:28095138.
  • Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Invest Ophthalmol Vis Sci. 2012;53(7):3463–72. doi:10.1167/iovs.12-9519. Cited in PubMed; PMID: 22531706.
  • Molday LL, Djajadi H, Yan P, Szczygiel L, Boye SL, Chiodo VA, Gregory-Evans K, Sarunic MV, Hauswirth WW, Molday RS. RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. Hum Molec Genet. 2013;22(19):3894–905. doi:10.1093/hmg/ddt244. Cited in PubMed; PMID:23740938.
  • Peshenko IV, Olshevskaya EV, Azadi S, Molday LL, Molday RS, Dizhoor AM. Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. Biochemistry. 2011;50(44):9511–19. doi:10.1021/bi201342b. Cited in PubMed; PMID: 21928830.
  • Jacobson SG, Cideciyan AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, Schwartz SB. Leber congenital amaurosis: genotypes and retinal structure phenotypes. Adv Exp Med Biol. 2016;854:169–75. doi:10.1007/978-3-319-17121-0_23. Cited in PubMed; PMID: 26427408.
  • Woodford BJ, Liu Y, Fletcher RT, Chader GJ, Farber DB, Santos-Anderson R, Tso MO. Cyclic nucleotide metabolism in inherited retinopathy in collies: a biochemical and histochemical study. Exp Eye Res. 1982;34(5):703–14. doi:10.1016/s0014-4835(82)80031-6. Cited in PubMed; PMID: 6282610.
  • Chang B, Heckenlively JR, Hawes NL, Roderick TH. New mouse primary retinal degeneration (rd-3). Genomics. 1993;16(1):45–49. doi:10.1006/geno.1993.1138. Cited in PubMed; PMID:8486383.
  • Hawes NL, Smith RS, Chang B, Davisson M, Heckenlively JR, John SW. Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol Vis. 1999;5:22. Cited in PubMed; PMID:10493779.
  • Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, et al. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013;8(1):e51622. doi:10.1371/journal.pone.0051622. Cited in PubMed; PMID: 23308101
  • Koenekoop RK. Successful RPE65 gene replacement and improved visual function in humans. Ophthalmic Genet. 2008;29(3):89–91. doi:10.1080/13816810802216480. Cited in PubMed; PMID: 18766986.
  • den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391–419. doi:10.1016/j.preteyeres.2008.05.003. Cited in PubMed; PMID:18632300.
  • Bainbridge JW, Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ, et al. Long-term effect of gene therapy on Leber’s congenital amaurosis. N Engl J Med. 2015;372(20):1887–97. doi:10.1056/NEJMoa1414221. Cited in PubMed; PMID:25938638.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.