Psychological morbidity in Leber’s hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors

نویسندگان

  • Josef Finsterer
  • Sinda Zarrouk-Mahjoub
  • Giancarlo A Garcia
  • Matin Khoshnevis
  • Jesse Gale
  • Starleen E Frousiakis
  • Tiffany J Hwang
  • Lissa Poincenot
  • Rustum Karanjia
  • David Baron
  • Alfredo A Sadun
چکیده

and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). Clinical Ophthalmology 2017:11 959–962 Clinical Ophthalmology Dovepress

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Leber’s (Plus?) Hereditary Optic Neuropathy: A Case Report

Leber's hereditary optic neuropathy (LHON)-plus is a maternally inherited genetic disorder of young males and characterized by severe progressive vision loss with other neurological and systemic symptoms. Here we present a young male with subacute progressive vision loss and Parkinsonism symptoms like right arm rigidity and endocrine abnormalities like hypoparathyroidism as a probable LHON-plus...

متن کامل

Magnetic resonance, magnetisation transfer, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.

The association between Leber’s hereditary optic neuropathy and multiple sclerosis has encouraged the search for susceptibility genes in multiple sclerosis. This symbiotic relation is reversed in the paper by Inglese et al (this issue, pp 444–449) in which magnetic resonance (MR) techniques originally developed for studying multiple sclerosis were applied to patients with Leber’s hereditary opt...

متن کامل

Leber’s hereditary optic neuropathy - case report

Leber’s hereditary optic neuropathy is a neuro-ophthalmological entity characterized by acute or subacute bilateral, not simultaneous visual loss with centro cekal scotoma and occasional further visual improvement. This rare ophthalmological disease can be accompanied with dyschromatopsia. It is associated with a matrilineal inheritance pattern. Its diagnosis used to be solely clini¬cal, aided ...

متن کامل

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy

PURPOSE Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral opti...

متن کامل

Cardiac abnormalities in patients with Leber's hereditary optic neuropathy.

Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complain...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2017