Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.
Mark RabinovichOlivia ZambrowskiAlexandra MiereRakia BhouriEric SouiedPublished in: Ophthalmic genetics (2023)
Once genetically established, NARP syndrome, as other mitochondrial disorders, has a very variable progression with different degrees of severity. A multimodal approach involving both neurological and ophthalmological diagnosis of NARP syndrome is necessary in order to establish the course of the disease and the measures to be taken.