Advanced search
Publication Cover
Ophthalmic Genetics Volume 38, 2017 - Issue 5
Submit an article Journal homepage
225
Views
9
CrossRef citations to date
0
Altmetric
Research Reports

Spectral-domain optical coherence tomography findings in Alström syndrome

Gad DotanOphthalmology Department, Tel Aviv Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USAView further author information
,
Vikas KhetanPediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA;Department of Vitreoretina and Ocular Oncology, Sankara Nethralaya, Chennai, IndiaView further author information
,
Jan D. MarshallThe Jackson Laboratory, Bar Harbor, Maine, USAView further author information
,
Elizabeth AffelDiagnostic Center, Wills Eye Hosptial, Philadelphia, Pennsylvania, USAView further author information
,
Denise Armiger-GeorgeBioptigen, Inc., Research Triangle Park, North Carolina, USAView further author information
,
Jürgen K. NaggertThe Jackson Laboratory, Bar Harbor, Maine, USAView further author information
,
Gayle B. CollinThe Jackson Laboratory, Bar Harbor, Maine, USAView further author information
&
Alex V. LevinPediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA;Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USACorrespondence[email protected]
View further author information
 show all
Pages 440-445 | Received 19 Aug 2016, Accepted 29 Oct 2016, Published online: 23 Jan 2017

References

  • Girard D, Petrovsky N. Alstrom syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol 2011;7:77–88.
  • Li G, Vega R, Nelms K, et al. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007;3:e8.
  • Marshall JD, Beck S, Maffei P, et al. Alstrom syndrome. Eur J Hum Genet 2007;15:1193–1202.
  • Millay RH, Weleber RG, Heckenlively JR. Ophthalmologic and systemic manifestations of Alstrom’s disease. Am J Ophthalmol 1986;102:482–490.
  • Russell-Eggitt IM, Clayton PT, Coffey R, et al. Alstrom syndrome. Report of 22 cases and literature review. Ophthalmology 1998;105:1274–1280.
  • Lee H, Sheth V, Bibi M, et al. Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmology 2013;120:2714–2724.
  • Maldonado RS, Izatt JA, Sarin N, et al. Optimizing hand-held spectral domain optical coherence tomography imaging for neonates, infants, and children. Invest Ophthalmol Vis Sci 2010;51:2678–2685.
  • Muni RH, Kohly RP, Sohn EH, et al. Hand-held spectral domain optical coherence tomography finding in shaken-baby syndrome. Retina 2010;30:S45–S50.
  • Mohammad S, Gottlob I, Kumar A, et al. The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography. Ophthalmology 2011;118:1645–1652.
  • Malm E, Ponjavic V, Nishina PM, et al. Full-field electroretinography and marked variability in clinical phenotype of Alstrom syndrome. Arch Ophthalmol 2008;126:51–57.
  • Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet 2007;28:113–125.
  • Michaud JL, Heon E, Guilbert F, et al. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 1996;128:225–229.
  • Vingolo EM, Salvatore S, Grenga PL, et al. High-resolution spectral domain optical coherence tomography images of Alstrom syndrome. J Pediatr Ophthalmol Strabismus 2010;47:e1–3.
  • Sebag J, Albert DM, Craft JL. The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure. Br J Ophthalmol 1984;68:494–501.
  • Aleman TS, Cideciyan AV, Aguirre GK, et al. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Invest Ophthalmol Vis Sci 2011;52:6898–910.
  • Gerth C, Zawadzki RJ, Werner JS, et al. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res 2008;48:392–399.
  • Jones BW, Kondo M, Terasaki H, et al. Retinal remodeling. Jpn J Ophthalmol 2012;56:289–306.
  • Jones BW, Marc RE. Retinal remodeling during retinal degeneration. Exp Eye Res 2005;81:123–137.
  • Aleman TS, Cideciyan AV, Sumaroka A, et al. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 2007;48:4759–4765.
  • Testa F, Maguire AM, Rossi S, et al. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology 2013;120:1283–1291.

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.