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Observation
December 29, 2016

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2

Author Affiliations
  • 1Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom
  • 2Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom
  • 3John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom
JAMA Ophthalmol. Published online December 29, 2016. doi:10.1001/jamaophthalmol.2016.4985

Sterol carrier protein (SCP) is a peroxisomal enzyme required for the breakdown of branched chain fatty acids such as pristanic and phytanic acid.1 Deficiency of this enzyme has been previously described to cause dystonia, neuropathy, and leukencephalopathy in 2 unrelated patients.1,2 Here, we report an unusual ophthalmic phenotype in one of these patients.2

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