RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION

Liu Xiaowei; Liu Liang; Li Hui; Xu Fei; Jiang Ruxin; Sui Ruifang

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RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION

机译：保留杆功能的RDH5视网膜病变（FUNDUS ALBIPUNCTATUS）

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摘要

Purpose: The aim of this study is to characterize the clinical features of four unrelated Chinese patients with retinal dehydrogenase 5 (RDH5) retinopathy (fundus albipunctatus) and to identify the genetic defects underlying this disorder.

机译：目的：本研究的目的是表征四名中国无关的视网膜脱氢酶5（RDH5）视网膜病变（眼底白化）的临床特征，并鉴定出该疾病的遗传缺陷。

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《Retina》 |2015年第3期|共8页
作者
Liu Xiaowei; Liu Liang; Li Hui; Xu Fei; Jiang Ruxin; Sui Ruifang;
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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
RDH5; mutation; fundus albipunctatus; ERG; preserved rod function;

机译：RDH5;突变;白底眼;ERG;保留杆功能;

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专利

1. RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION [J] . Liu Xiaowei, Liu Liang, Li Hui, Retina . 2015,第3期

机译：保留杆功能的RDH5视网膜病变（FUNDUS ALBIPUNCTATUS）
2. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). [J] . Sergouniotis PI, Sohn EH, Li Z, Ophthalmology . 2011,第8期

机译：RDH5视网膜病变（白化病）的表型变异。
3. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature [J] . Nan-Kai Wang, Lan-Hsin Chuang, Chi-Chun Lai, Documenta Ophthalmologica . 2012,第1期

机译：具有RDH5突变的白底眼底多模式眼底成像：一种新鉴定的复合杂合突变并文献复习
4. Hypertensive Retinopathy Screening through Fundus Images-A Review [C] . Dimple Nagpal, Surya Narayan Panda, Muthukumaran Malarvel International Conference on Inventive Computation Technologies . 2021

机译：通过眼底图像进行高血压视网膜病筛查 - 评论
5. Fundus image analysis for the detection of diabetic retinopathy disease. [D] . Saleh, Marwan D. 2015

机译：眼底图像分析，用于检测糖尿病性视网膜病。
6. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families [O] . Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, 2012

机译：RDH5的新突变导致两个近亲巴基斯坦家庭的眼底白喉
7. Long-term effects of retinopathy of prematurity (ROP) on rod and rod-driven function [O] . Maureen E. Harris, Anne Moskowitz, Anne B. Fulton, 2010

机译：早产儿（ROP）对杆和杆驱动功能的长期影响

RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION

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