Optic Atrophy 3, Autosomal Dominant (OPA3)

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Disease Ontology 12 DOID:0111433 OMIM® 57 165300 OMIM Phenotypic Series 57 PS165500 MeSH 44 C537128 D015418 SNOMED-CT 67 719517009 MESH via Orphanet 45 C537128

ICD10 via Orphanet 33 H47.2 UMLS via Orphanet 71 C1833809 Orphanet 58 ORPHA67036 MedGen 41 C1833809 SNOMED-CT via HPO 68 103276001 128306009 13164000 15188001 193570009 204138006 205091006 22253000 22631008 23388006 246674000 247053007 25082004 26079004 263681008 274818004 298310004 299130003 302200001 315352000 315353005 343087000 38950008 394616008 43378000 51886007 52824009 55300003 563001 56610005 59770006 65956007 76349003 76976005 77479002 81016008 85049009 85102008 91019004 9236007 95646004 95828007 more UMLS 70 C0574084 C1833809

MedlinePlus Genetics : ⁴³ Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eyes to the brain (optic nerves), which contributes to vision loss. Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. Most people with this disorder also have clouding of the lenses of the eyes (cataracts). This eye abnormality can develop anytime but typically appears in childhood. Other common eye problems in autosomal dominant optic atrophy and cataract include involuntary movements of the eyes (nystagmus), or problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.Some people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. These disturbances can lead to problems with balance and coordination (cerebellar ataxia), an unsteady style of walking (gait), prickling or tingling sensations (paresthesias) in the arms and legs, progressive muscle stiffness (spasticity), or rhythmic shaking (tremors). In some cases, affected individuals have hearing loss caused by abnormalities of the inner ear (sensorineural deafness).

MalaCards based summary : Optic Atrophy 3, Autosomal Dominant, also known as optic atrophy 3, is related to marinesco-sjogren syndrome and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways is Mitophagy. Affiliated tissues include eye and retina, and related phenotypes are optic atrophy and nystagmus

Disease Ontology : ¹² An optic atrophy characterized by optic atrophy and cataract that has material basis in heterozygous mutation in OPA3 on chromosome 19q13.32.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67036 Definition A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).

UniProtKB/Swiss-Prot : ⁷² Optic atrophy 3: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.

More information from OMIM: 165300 PS165500

Clinical features from OMIM®:

165300 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 3, Autosomal Dominant

Search GEO for disease gene expression data for Optic Atrophy 3, Autosomal Dominant.