Article
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ophthalmic genetics - 1 Oct 2023
Ota Junya, Inooka Taiga, Okado Satoshi, Maeda Natsuki, Koyanagi Yoshito, Kominami Taro, Nishiguchi Koji M, Ueno Shinji
Abstract excerpt
BACKGROUND: Nanophthalmos (NNO) is a rare condition with significantly shorter axial length than normal. Several genes are known to cause NNO, among them the MFRP and PRSS56 genes have been reported to cause majority of NNOs. The purpose of this study was to determine the genetic basis of Japanese patients with NNO. MATERIALS AND METHODS: We studied seven patients with NNO. Whole exome sequencing (WES) and Sanger...
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