Novel mutation in PANK2 associated with retinal telangiectasis

Pantothenate kinase-associated neurodegeneration (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.1 2 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 melanolipofuscin.2 In keeping with these observations, electroretinographic abnormalities, ranging from mild cone to severe rod–cone dysfunction, have been reported.3 Retinal telangiectasis, also known as Coats'-like or Coats'-type exudative vasculopathy, may occur in both syndromic and non-syndromic retinitis pigmentosa.4 However, we are not aware of previous published reports of exudative vasculopathy associated with PKAN. We have characterised a patient with a novel mutation in PANK2 that had spontaneous resolution of retinal telangiectasis. In October 2005, a 10-year-old girl was referred to Moorfields Eye Hospital …