Advanced search
Publication Cover
Ophthalmic Genetics Volume 38, 2017 - Issue 1: Festschrift Honoring Irene Hussels Maumenee
Submit an article Journal homepage
597
Views
34
CrossRef citations to date
0
Altmetric
Research Reports

Ophthalmological findings in 74 patients with mitochondrial disease

Cheng-Cheng ZhuCleveland Clinic, Center for Pediatric Neurology, Cleveland, Ohio, USA;Lerner College of Medicine, Cleveland Clinic, Cleveland, Ohio, USA
,
Elias I. TraboulsiCole Eye Institute, Center for Genetic Eye Diseases, Cleveland Clinic, Cleveland, Ohio, USA
&
Sumit ParikhCleveland Clinic, Center for Pediatric Neurology, Cleveland, Ohio, USACorrespondence[email protected]
Pages 67-69 | Received 21 Mar 2015, Accepted 06 Dec 2015, Published online: 30 Mar 2016

References

  • Luft R, Ikkos D, Palmieri G, et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776–1804.
  • Falk Marni J, Sondheimer N. Mitochondrial genetic diseases. Curr Opin Pediatr 2010;22:711–716.
  • Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126:1905–1912.
  • Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35–39.
  • Chinnery PF. Mitochondrial disease overview. Gene Rev 2006;Feb:1–20.
  • Al- Enezi MA, Al- Saleh H, Nasser M. Mitochondrial disorders with significant ophthalmic manifestations. Middle East Afr J Ophthalmol 2008;15:81–86.
  • Gronlund MA, Honavar AK, Andersson S, et al. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease. Br J Ophthalmol 2010;94:121–127.
  • Phillips P, Newman N. Mitochondrial diseases in pediatric ophthalmology. J AAPOS 1997;2:115–122.
  • Scalgia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925–931.
  • Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343–351.
  • Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling decet. Ann Neruol 2008;63:794–798.
  • Latvala T, Mustonen E, Uusitalo R, Majamaa K. Pigmentary retinopathy in patients with the MELAS mutation 3243A>G in mitochondrial DNA. Graefe’s Arch Clin Exp Ophthalmol 2002;240:795–801.
  • Han J, Lee YM, Kim SM, et al. Ophthalmological manifestations in patients with Leigh syndrome. Br J Ophthalmol 2015;99(4):528–535.
  • Skladal D, Sudmeier C, Konstantopoulou V, et al. The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr 2003;42:703–710.

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.