OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

Autosomal dominant optic atrophy and late-onset deafness (also known as optic atrophy type 1 with deafness, or Kjer disease with sensorineural hearing loss) is a rare inherited neurological condition that primarily affects the optic nerves and the auditory system. This entry is now considered obsolete in Orphanet, as it has been reclassified or merged into the broader category of autosomal dominant optic atrophy plus syndrome (Optic Atrophy Plus or OPA1-related disorders). The condition is characterized by progressive loss of visual acuity due to degeneration of the optic nerve (optic atrophy), typically beginning in childhood, followed by the development of sensorineural hearing loss that manifests later in life, usually in adulthood. The optic atrophy leads to central vision loss, color vision deficits (particularly affecting blue-yellow discrimination), and visual field defects such as central or cecocentral scotomas. The condition is caused by mutations in the OPA1 gene, which encodes a mitochondrial dynamin-like GTPase essential for mitochondrial fusion and maintenance of the inner mitochondrial membrane. Because mitochondrial dysfunction underlies the disease, additional neurological features may be present in some patients, including ataxia, myopathy, and progressive external ophthalmoplegia, which are collectively referred to as 'OPA1 plus' phenotypes. The auditory component involves sensorineural hearing loss that can range from mild to severe and typically develops in the second to fourth decades of life. There is currently no curative treatment for this condition. Management is supportive and multidisciplinary, involving regular ophthalmological assessments, low-vision aids, hearing aids or cochlear implants for hearing loss, and genetic counseling for affected families. Research into potential therapies targeting mitochondrial function, including gene therapy and idebenone supplementation, is ongoing but no definitive disease-modifying treatments have been established.

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