Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

作     者：Hui Cui Xin Jin Qing-Hua Yang Ling-Hui Qu Bao-Ke Hou Zhao-Hui Li Hou-Bin Huang 

作者机构：Senior Department of Ophthalmologythe Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmologythe 74th Army Group HospitalGuangzhou 510318Guangdong ProvinceChina Department of OphthalmologyHainan Hospital of Chinese PLA General HospitalSanya 572000Hainan ProvinceChina 

出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)

年 卷 期：2022年第15卷第12期

页      面：1915-1923页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

主　　题：cone-rod homeobox cone-rod dystrophy mutation 

摘      要：AIM:To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy(ad CORD)patients from two Chinese families with cone-rod homeobox(CRX)mutation(p.R41W),and to explore the clinical heterogeneity of ad CORD with CRX mutation(p.R41W).METHODS:Interrogation and ophthalmological examinations were undertaken in all patients and unaffected *** of clinical features was performed by visual acuity,slit lamp examination,visual field examination,fundoscopy,autofluorescence and spectral domain optical coherence *** next-generation sequencing was applied as a useful tool to identify the causative mutation of CORD ***:A CRX missense mutation c.121CT was identified in all patients,resulting in an amino acid change from arginine acid to tryptophan(p.R41W).The patients presented with early onset,progressive and different severities with ***:This is the first report of the clinical phenotype of CRX mutation(p.R41W)in Chinese families,and the mutation can lead to a wide range of various retinal phenotypes.