Genetic and clinical diagnosis of a Chinese family with incomplete congenital stationary night blindness caused by a novel CACNA1F mutation

We here describe the clinical features and identify the genetic cause of incomplete congenital stationary night blindness (CSNB) in a Chinese family. Three patients from a three-generation Chinese family were clinically examined. They exhibited nystagmus, hyperopia, and undetectable ERG a-wave and b...

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Principais autores:	Zhen Qu, Xiaohua Xie, Jinglin Mao, Fanglian Zhang, Ying Chen, Longquan Xiang
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wolters Kluwer Medknow Publications 2024-04-01
סדרה:	Indian Journal of Ophthalmology. Case Reports
נושאים:	cacna1f csnb erg wes
גישה מקוונת:	https://journals.lww.com/10.4103/IJO.IJO_943_23
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!