Han Jinu, Kim Do Wook, Lee Chul-Ho, Han Sueng-Han
Department of Ophthalmology (JH, DWK, S-HH), Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea; and Division of Clinical Genetics (C-HL), Department of Pediatrics, Severance Children's Hospital, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
J Neuroophthalmol. 2016 Jun;36(2):182-6. doi: 10.1097/WNO.0000000000000335.
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal. Optic atrophy is a rare finding in patients with PKAN. It is important for the clinician to consider PKAN in the differential diagnosis of patients presenting with signs of extrapyramidal dysfunction, cognitive decline, and vision loss because of optic atrophy.
