Virginie G Peter1,2, Konstantinos Nikopoulos1,3, Mathieu Quinodoz1,2, Lotta Granse4, Pietro Farinelli5, Andrea Superti-Furga3, Sten Andréasson4, Carlo Rivolta1,2. 1. a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland. 2. b Department of Genetics and Genome Biology , University of Leicester , Leicester , UK. 3. c Service of Medical Genetics , Lausanne University Hospital (CHUV) , Lausanne , Switzerland. 4. d Department of Ophthalmology , University of Lund , Lund , Sweden. 5. e Department of Biology , University of Copenhagen , Copenhagen , OE , Denmark.
Abstract
BACKGROUND: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. METHODS: Complete ophthalmic examination and next-generation sequencing. RESULTS: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. CONCLUSION: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.
BACKGROUND: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. METHODS: Complete ophthalmic examination and next-generation sequencing. RESULTS: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. CONCLUSION: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.
Authors: Carmen Espinós; Máximo Ibo Galindo; María Adelaida García-Gimeno; José Santiago Ibáñez-Cabellos; Dolores Martínez-Rubio; José María Millán; Regina Rodrigo; Pascual Sanz; Marta Seco-Cervera; Teresa Sevilla; Andrea Tapia; Federico V Pallardó Journal: Antioxidants (Basel) Date: 2020-04-15
Authors: Ji Hoon Han; Gavin Ryan; Alyson Guy; Lu Liu; Mathieu Quinodoz; Ingrid Helbling; Joey E Lai-Cheong; Julian Barwell; Marc Folcher; John A McGrath; Celia Moss; Carlo Rivolta Journal: Hum Mol Genet Date: 2022-06-22 Impact factor: 5.121