Tag: NRL gene

Clinical phenotype and genetic characteristics of a pedigree with autosomal recessive enhanced S-cone syndrome and strabismus caused by pathogenic variants in the NRL gene

2026，No. 07, Clinical Science, Current Issue, Highlights

Authors:Li Jie, Li Zhanrong, Li Guanfeng, Jiang Yongqiang, Lu Xiaonan, Liu Xiaohui, Dai Shuzhen Corresponding author:Dai Shuzhen, Email: dsz997300056@163.com Published:2026-07-10 DOI: 10.3760/cma.j.cn115989-20251124-00403 ABSTRACT  Objective To analyze the clinical phenotypes and genetic characteristics of a Chinese Han pedigree with autosomal recessive enhanced S-cone syndrome (ESCS) caused by pathogenic variants in the Neural retina leucine zipper (NRL) gene, presenting with strabismus as the initial symptom. Methods […]