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Novel mutation in PANK2 associated with retinal telangiectasis
  1. Elliott H Sohn1,2,
  2. Michel Michaelides2,3,
  3. Alan C Bird2,3,
  4. Clare J Roberts4,
  5. Anthony T Moore2,3,
  6. Diane Smyth4,
  7. Angela F Brady5,
  8. John L Hungerford2
  1. 1Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA
  2. 2Moorfields Eye Hospital, London, UK
  3. 3UCL Institute of Ophthalmology, University College London, London, UK
  4. 4Imperial College NHS Trust, London, UK
  5. 5North West Thames Regional Genetics Service, Kennedy-Galton Centre, London, UK
  1. Correspondence to Dr Elliott Sohn, Doheny Eye Institute, 1450 San Pablo St, Suite 3608, Los Angeles, CA 90033, USA; elliott.sohn{at}gmail.com

https://doi.org/10.1136/bjo.2010.183616

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    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 …

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    Footnotes

    • Funding Eugene de Juan Fellowship Award (EHS). The work was supported by grants from Moorfields Special Trustees and the National Institute for Health Research UK to the Biomedical Research Centre for Ophthalmology based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology (London, UK).

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval This study was conducted with the approval of the North West Thames Regional Genetics Service, Kennedy-Galton Centre.

    • Provenance and peer review Not commissioned; externally peer reviewed.