062 A case of autosomal dominant optic atrophy plus syndrome. Issue 6 (27th May 2022) - Brennan, Declan
Abstract : Autosomal dominant optic atrophy plus syndrome is a rare cause of blindness and sensorineural deafness, usually presenting with insidious onset in childhood. Other clinical manifestations are variable but include, peripheral neuropathy, myopathy, opthalmoplegia, ataxia and spastic paraparesis. We present a 50-year-old gentleman brought to clinic with a history of a slowly progressive gait difficulty. He was blind and deaf since childhood but no diagnosis had been made. He had no relevant family history. Examination revealed bilateral optic atrophy on fundoscopy. He was unable to stand unassisted and had reduced reflexes in the lower limbs. MRI brain and spine, together with routine bloods including neuropathy screen were unremarkable. Nerve conduction studies/EMG showed evidence of a large fibre sensorimotor axonal peripheral neuropathy, which was worse in the lower limbs. Given his constel- lation of symptoms, genetic testing was arranged and revealed a heterozygous pathogenic variant in OPA1 gene. This was consistent with a diagnosis of autosomal dominant optic atrophy plus syndrome. This condition is rare and often first detected in childhood. Diagnosis can be challenging due to variable clinical phenotypes and markedly variable expression of disease within families. There is a need for strong clinical suspicion for the disease in any patient with a history of blindness. declan: brennan.1@ucdconnect.ie 56