/autosomal dominant optic atrophy plus syndrome

autosomal dominant optic atrophy plus syndrome

Rare Disease

MONDO:0014720

Also Known As

DOA+optic atrophy type 8optic atrophy-deafness-polyneuropathy-myopathy syndromeTreft-Sanborn-Carey syndromedominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathyoptic atrophy - deafness- polyneuropathy - myopathy

Definition

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.