O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease

PHARC: peripheral neuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, is a progressive recessively inherited, neurodegenerative disease that we initially ascertained as a phenocopy for Refsum’s disease. Patients develop cataract, hearing loss and a predominantly demyelinating peripheral neuropathy early, usually in the teens. Retinitis pigmentosa typically starts in young adult life and progresses slowly. The onset and severity of ataxia are variable.