A Rare Case of Autosomal Dominant Optic Atrophy “Plus” Syndrome

To report a rare case of autosomal dominant optic atrophy plus syndrome in a patient with decreased visual acuity.

A 27-year-old man with decreased visual acuity since many years ago and his visual acuities were 20/500 OD and 20/400 OS. He also had several other neurologic findings, including bilateral optic atrophy, sensorineural hearing loss, and sensorimotor polyneuropathy. He was under anti-glaucoma medication due to abnormal optic disc appearance. After clinical evaluation, autosomal dominant optic atrophy plus syndrome was diagnosed.

Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy. With central nervous system symptoms such as hearing loss, this syndrome is called ADOA plus Syndrome. Clinicians should consider that “plus” symptoms may appear years after vision decrement in some patients with autosomal dominant optic atrophy.