RT Journal Article
SR Electronic
T1 Late-onset Leber’s hereditary optic neuropathy: the role of environmental factors in hereditary diseases
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e227977
DO 10.1136/bcr-2018-227977
VO 12
IS 3
A1 Moura-Coelho, Nuno
A1 Pinto Proença, Rita
A1 Tavares Ferreira, Joana
A1 Cunha, João Paulo
YR 2019
UL http://casereports.bmj.com/content/12/3/e227977.abstract
AB Leber’s hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance, characterised by incomplete penetrance and variable expressivity. Typically, young male patients present with sequential, severe, rapidly progressive loss of central vision, with characteristic funduscopic findings. However, LHON may present at any age, in both genders, and fundus examination may be normal. Evidence has emerged to support the role of environmental factors in triggering LHON, by disrupting the normal mechanisms of mitochondrial function. We present two clinical cases of LHON of late onset, and provide a literature review on atypical cases of LHON and the role of environmental triggers.