Glaucoma is a leading cause of irreversible blindness worldwide and is characterized by a
slow, progressive, and multifactorial degeneration of retinal ganglion cells (RGCs) and their …

The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …

Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative
disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome …

Glaucoma is defined by characteristic optic nerve damage and corresponding visual field
defects and is the leading cause of irreversible blindness in the world. Elevated intraocular …

The important roles of mitochondrial function and dysfunction in the process of
neurodegeneration are widely acknowledged. Retinal ganglion cells (RGCs) appear to be a …

The repair of spinal cord injury (SCI) is still a tough clinical challenge and needs innovative
therapies. Mitochondrial function is significantly compromised after SCI and has emerged as …

Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by an impaired transmission of sound from the cochlea to the brain. This …

Pathological deterioration of mitochondrial function is increasingly linked with multiple
degenerative illnesses as a mediator of a wide range of neurologic and age-related chronic …