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Autosomal dominant optic atrophy classic form

Synonyms
Kjer-type optic atrophy; Optic Atrophy Type 1; Optic atrophy, juvenile
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only). Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent. [from GeneReviews]

Available tests

75 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (75 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BERHS, MGM1, MTDPS14, NPG, NTG, largeG, OPA1
    Summary: OPA1 mitochondrial dynamin like GTPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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