Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy plus syndrome
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.
Also known as DOA+, optic atrophy type 8, optic atrophy-deafness-polyneuropathy-myopathy syndrome — per MONDO