Mitochondrial Optic Neuropathies - Expanding Genotypes and Phenotypes
Creator
Rustum Karanjia
Affiliation
University of Ottawa, Ontario, Canada
Subject
Leber Hereditary Optic Neuropathy Plus Syndromes; Harding's Disease; Autosomal Hereditary Optic Neuropathies; Leigh Syndrome; Charles Bonnet Syndrome
Description
Mitochondrial Optic Neuropathies (MON) are a genetically and phenotypically diverse group of diseases. Despite the different genetic causes, there is considerable phenotypic overlap which makes distinguishing one mutation from another solely based on clinical presentation difficult. Moreover, clinical presentation can include non-ocular symptoms and the clinical manifestations can be variable even within the same family. The genetic causes of MON can also influence the severity of other diseases such as Multiple Sclerosis, and may modulate other neuropathological progression of other disorders such as Parkinson disease.
Date
2022-02
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
2022 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of
NANOS Annual Meeting 2022: Mitochondrial Disorders: More Than the Optic Nerve