Conditions / Syndrome
dominant optic atrophy plus syndrome
info · Syndrome
A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous
A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
Signs and symptoms
- Dyschromatopsia
- Optic atrophy
- Visual impairment
- Central scotoma
- Strabismus
- Myopathy
- Polyneuropathy
- Reduced visual acuity
- Centrocecal scotoma
- Tritanomaly
Also known as: DOA+; optic atrophy plus syndrome; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy