Jensen syndrome; opticoacoustic nerve atrophy with dementia

Pathology

• optic nerve atrophy
• cochlear nerve atrophy
• dementia

Genetics

• mutation in the gene for TIM8A
  • same gene implicted in dsytonia deafness syndrome
• X-linked inheritance

Clinical manifestations

• sensorineural hearing loss onset in infancy (deafness)
• visual loss in adolescence (blindness)
• dementia in adulthood
• muscle weakness

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Additional terms

• dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1
• mitochondrial import inner membrane translocase subunit TIM8A; deafness dystonia protein 1; X-linked deafness dystonia protein (TIMM8A, DDP, DDP1, TIM8A)

Database

• OMIM: https://mirror.omim.org/entry/311150