Mitochondrial diseases frequently manifest neuro-ophthalmologic symptoms and signs.
Because of the predilection of mitochondrial disorders to involve the optic nerves …

Historically, distinct mitochondrial syndromes were recognised clinically by their ocular
features. Due to their predilection for metabolically active tissue, mitochondrial diseases …

Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative
phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many …

Mitochondria are increasingly recognized as central players in the life and death of cells and
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …

Primary mitochondrial genetic disease manifestations can involve almost all aspects of the
eye. Mitochondrial dysfunction is increasingly recognized as playing a causative role in the …

Mitochondria are critical for ocular function as they represent the major source of a cell's
supply of energy and play an important role in cell differentiation and survival. Mitochondrial …

Genetic disorders due to mitochondrial dysfunction are not uncommon and the majority of
these patients will have eye-related manifestations, including visual loss from the optic nerve …

Purpose. To investigate the incidence and clinical significance of primary or proposed
secondary mitochondrial DNA (mtDNA) mutations in Japanese patients with Leber's …

Mitochondrial dysfunction commonly presents with ocular findings as a part of a systemic
disorder. These ophthalmic manifestations can be the first sign of a mitochondrial …

It has become evident that many human disorders are characterised by mitochondrial
dysfunction either at a primary level, due to mutations in genes whose encoded products are …