Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion,
is responsible for a large spectrum of neurological disorders, each of which includes optic …

Autosomal‐dominant optic atrophy (ADOA) is the most common inherited optic neuropathy,
due to mutations in the optic atrophy 1 gene (OPA 1) in about 60%–80% of cases. At …

Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy.
Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the …

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

Abstract Optic Atrophy 1 (OPA 1) gene mutations cause diseases ranging from isolated
dominant optic atrophy (DOA) to various multisystemic disorders. OPA 1, a large GTP ase …

The OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in autosomal
dominant optic atrophy (ADOA, OMIM# 165500). ADOA, also known as Kjer's optic atrophy …

PURPOSE:: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited
optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and …

Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that
features low visual acuity leading in many cases to legal blindness. We have recently …

Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies.
This disease is genetically heterogeneous, but most cases are due to pathogenic variants in …

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 …