Safinaz Mohd Khialdin1,2, John Grigg3,4, Neil Rowe1, Stephanie Crofts5,6, Meredith Wilson7, Christopher Troedson8. 1. Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia. 2. Department of Ophthalmology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Center, 56000, Cheras, Malaysia. 3. Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, NSW, Australia. john.grigg@sydney.edu.au. 4. Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia. john.grigg@sydney.edu.au. 5. Save Sight Institute, Discipline of Ophthalmology, University of Sydney, 8 Macquarie St., Sydney, NSW, 2001, Australia. 6. Department of Orthoptics, The Children's Hospital at Westmead, Westmead, NSW, Australia. 7. Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia. 8. Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Abstract
PURPOSE: Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye. METHOD: A case history of a nine-year-old boy with PGK deficiency is reported. RESULTS: This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal. CONCLUSIONS: Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.
PURPOSE: Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye. METHOD: A case history of a nine-year-old boy with PGK deficiency is reported. RESULTS: This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal. CONCLUSIONS:Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.
Authors: Núria Noel; Jonathan M Flanagan; John Flanagan; Maria Jose Ramirez Bajo; Susana G Kalko; María del Mar Mañú; José Luis Garcia Fuster; Pablo Perez de la Ossa; Josep Carreras; Ernest Beutler; Joan-Lluís Vives Corrons Journal: Br J Haematol Date: 2006-02 Impact factor: 6.998
Authors: T Harada; C Harada; M Watanabe; Y Inoue; T Sakagawa; N Nakayama; S Sasaki; S Okuyama; K Watase; K Wada; K Tanaka Journal: Proc Natl Acad Sci U S A Date: 1998-04-14 Impact factor: 11.205
Authors: Virginia Garcia-Solaesa; Pablo Serrano-Lorenzo; Maria Antonia Ramos-Arroyo; Alberto Blázquez; Inmaculada Pagola-Lorz; Mercè Artigas-López; Joaquín Arenas; Miguel A Martín; Ivonne Jericó-Pascual Journal: Genes (Basel) Date: 2019-10-10 Impact factor: 4.096