Eye Problems in Mitochondrial DIsorders

admin  ∼  September 19, 2014  ∼  Mitochondrial disease Symptom Diagnose Evaluation CPEO optical LHON Ptosis Research Retinitis Pigmentosa Clinical Trial

VMP's Dr Fran Kendall Factoid Friday Blog on Rare Diseases


The eye is the window to the soul, as they say and, as a part of the brain and musculoskeletal system visual acuity and eye movements are very energy dependent and, therefore, often affected in mitochondrial disease. Eye problems can be as “simple” as onset of blurry vision at the end of the day due to eye muscle weakness caused by fatigue leading to a mild malfunction in the alignment of the eyes to frank ptosis (drooping eyelids) and loss of eye movements in all directions (CPEO). These issues are typically due to eye muscle weakness and are frequently found in many mitochondrial patients. Although little can be done for these problems, surgery is available for ptosis that impacts vision. However, actual visual acuity can be impacted in mitochondrial disease as well due to the presence of cataracts, for example, or to the development of retinal problems, such as retinitis pigmentosa, the latter of which is progressive and often leads to blindness. A very specific blindness syndrome, known as LHON (Leber’s hereditary optic neuropathy), typically associated with the common mtDNA 11778 mutation, causes a sudden and painless loss of vision primarily in men. While untreatable in the past, there are several research projects, including a gene therapy trial in Florida, attempting to reverse the blindness in this specific disorder. Results from an Idebenone study are also promising. Considerable advances are being made in the realm of LHON specifically. Information on additional government funded research projects and trials can be found at www.clinicaltrials.gov.

Folks, this is the last Factoid Friday this year. It was a summer pilot project to determine interest for ongoing education in the mito community. Because it has been well received VMP Genetics is developing other formats for future education and we will relaunch in spring of 2015. Stay tuned! 

This post is not meant to be a recommendation or a substitute for professional advice and services rendered by qualified doctors, allied medical personnel, and other professional services. The responsibility for any use of this information, or for proper medical treatment, rests with you.