Peroxisomal Disorders and Retinal Degeneration

Peroxisomal disorders are a group of inherited metabolic diseases, which can be incompatible with life in the postnatal period or allow survival into adulthood. Retinopathy is a recurrent feature in both the severely and mildly affected patients, which can be accompanied with other ophthalmological pathologies. Thanks to next-generation sequencing, patients originally identified with other inherited blinding diseases were reclassified as suffering from peroxisomal disorders. In addition, new peroxisomal gene defects or disease presentations exhibiting retinal degeneration were recently identified. The pathogenic mechanisms underlying retinopathy in peroxisomal disorders remain unresolved.