Preferred Label : Deafness - opticoacoustic nerve atrophy - dementia;
ICD-11 definition : This syndrome is a generalized degenerative disease of the central nervous system
characterized by sensorineural hearing loss with onset in infancy, followed in adolescence
by progressive optic nerve atrophy with loss of vision and in adulthood by progressive
dementia. It has been described in three patients (a boy and his two maternal uncles).
It is likely to be transmitted as an X-linked recessive trait. A mutation in the TIMM8A
gene (located at Xp22) has been identified in one patient.;
ICD-11 synonym : Jensen syndrome;
Origin ID : 307231729;
Automatic exact mappings (from CISMeF team)
This syndrome is a generalized degenerative disease of the central nervous system
characterized by sensorineural hearing loss with onset in infancy, followed in adolescence
by progressive optic nerve atrophy with loss of vision and in adulthood by progressive
dementia. It has been described in three patients (a boy and his two maternal uncles).
It is likely to be transmitted as an X-linked recessive trait. A mutation in the TIMM8A
gene (located at Xp22) has been identified in one patient.
