dominant optic atrophy


Also found in: Acronyms.

dominant optic atrophy

an autosomal dominant bilateral optic neuropathy characterized by insidious preschool vision loss most commonly due to mutations in the gene.
Synonym(s): Kjer optic atrophy

dom·i·nant op·tic at·ro·phy

(dom'i-nănt op'tik at'rŏ-fē)
An autosomal dominant bilateral optic neuropathy characterized by insidious preschool vision loss.
Synonym(s): Kjer optic atrophy.
References in periodicals archive ?
In a small, pilot open-label trial, seven patients with confirmed dominant optic atrophy (DOA) were treated with idebenone (270-1000 mg/day) for at least one year and the authors reported improved visual function in all patients when compared to baseline [55].
Blakely et al., "Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance," Brain, vol.
Verny et al., "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract," Journal of Medical Genetics, vol.
Harding, "Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy," Journal of Neurology Neurosurgery and Psychiatry, vol.
Valentino et al., "Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations," Archives of Neurology, vol.
Chinnery, "OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy," Brain, vol.
Moore, "Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy," Archives of Ophthalmology, vol.
Bette et al., "OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina," Investigative Ophthalmology and Visual Science, vol.
TABLE 1 Etiologies Number of Eyes with Percentage eyes cysts Hereditary optic atrophy (mitochondrial or autosomal 40 30 75% dominant optic atrophy) Ischemic optic neuritis 6 3 50% Drusen of Optic nerve 4 2 50% Compressive OA 9 4 44.4% Inflammatory optic neuropathy 27 12 32% Undetermined origin OA 27 5 18.5% Primary open angle glaucoma 85 15 17.6% Idiopathic intracranial hypertension 2 0 0% Juxtapapillary toxoplasmic 1 0 0% TABLE 2 Optic nerve RNFL RNFL with cyst RNFL/normal P value Superior 74.28 113 P < 0.001 Inferior 71.95 115.90 P < 0.001 Nasal 52.90 65.54 P < 0.05 Temporal 35.28 56.27 P < 0.001
Dominant optic atrophy (DOA) is a hereditary disease.

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