JIMD Reports, Volume 27

Dorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, Sylwia Łuczak, Katarzyna Iwanicka-Pronicka, Stephanie Siegmund, Hua Yang, Quan Wen, Quan V. Hoang, Ronald H. Silverman, Paweł Kowalski, Olga Szczypińska, Kamila Czornak, Janusz Zimowski, Rafał Płoski, Jacek Pilch, Elżbieta Ciara, Jacek Zaremba, Małgorzata Krajewska-Walasek, Eric A. Schon, Ewa Pronicka, Piekutowska-Abramczuk, Dorota, Kocyła-Karczmarewicz, Beata, Małkowska, Maja, Łuczak, Sylwia, Iwanicka-Pronicka, Katarzyna, Siegmund, Stephanie, Yang, Hua, Wen, Quan, Hoang, Quan V., Silverman, Ronald H., Kowalski, Paweł, Szczypińska, Olga, Czornak, Kamila, Zimowski, Janusz, Płoski, Rafał, Pilch, Jacek, Ciara, Elżbieta, Zaremba, Jacek, Krajewska-Walasek, Małgorzata, Schon, Eric A., Pronicka, Ewa

SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic examinations were performed on 35 E140K carriers, one homozygous infant, and on a mouse model of Sco2 deficiency. Additionally, a screen for other putative effects of SCO2 heterozygosity was carried out by comparing the prevalence of the common E140K variant in a population of patients with undiagnosed diseases compatible with SCO2-related pathogenesis to that in a general population sample. High-grade myopia was not identified in any of the studied individuals. Of the carriers, 17 were emmetropic, and 18 possessed refractive errors. Additionally, no significant axial elongation indicative of high-grade myopia was found in mice carrying E129K (corresponding to E140K in humans) knock-in mutations. The prevalence of E140K carriers in the symptomatic cohort was evaluated as 1:103 (CI: 0.44-2.09) and did not differ significantly from the population prevalence (1:147, CI: 0.45-1.04).Our study demonstrates that heterozygosity for pathogenic SCO2 variants is not associated with high-grade myopia in either human patients or in mice.