Novel mutation in PANK2 associated with retinal telangiectasis.

摘要

Pantothenate kinase-associated neuro-degeneration (PKAN; OMIM 234200) is caused by recessive mutations in PANK2 and is characterised by dystonia, cerebral iron accumulation, pathognomonic 'eye of the tiger' MRI finding, and pigmentary retinal degeneration. Bone spicule formation, retinal vessel attenuation and yellow-white globular deposits seen clinically have been correlated histopathologically with degeneration of photoreceptors, marked outer retinal layer thinning and accumulation of mela-nolipofuscin. In keeping with these observations, electroretinographic abnormalities, ranging from mild cone to severe rod-cone dysfunction, have been reported.