Dominant optic atrophy (DOA, OMIM 165500) is the most common inherited optic
neuropathy (1), with prevalence estimates of 1: 12,000 in Denmark (2) and 1: 25,000 in …

Autosomal-dominant optic atrophy (DOA) is the most common inherited optic nerve disorder
seen in clinical practice. 1 So far, 2 causative genes have been identified in patients with …

DISCUSSION Establishing firm pathogenicity of a novel mutation in the OPA1 gene in a
patient with unexplained optic atrophy requires a systematic approach and may not be …

Purpose: Autosomal dominant optic atrophy (DOA) is the commonest inherited optic
neuropathy with~ 60% of patients carrying pathogenic variants in the nuclear-encoded …

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

PURPOSE: Autosomal dominant optic atrophy (DOA) is a major cause of visual impairment
in young adults that is characterized by selective retinal ganglion cell loss. To define the …

Background/aims: Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous
disease. However, a large proportion of this disease is accounted for by mutations in OPA1 …

Dominant optic atrophy is a degenerative disease of the optic nerve, which causes
decreased visual acuity in early childhood. Clinical signs include cecocentral scotomas …

purpose. To characterize the spectrum of mutations in the OPA1 gene in a large
international panel of patients with autosomal dominant optic atrophy (adOA), to improve …

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 …