Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic
process, with mitochondrial segments fusing and breaking apart continuously. Strong …

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has
provided a molecular framework for understanding maternally inherited diseases. However …

Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies and they result in significant visual …

Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition
characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss …

OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner
mitochondrial membrane, which plays a role in mitochondrial fusion. Mutations in the OPA1 …

Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

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

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