Authors: Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Chinese Hereditary Ocular Disease Alliance, Expert Workgroup of Expert consensus on diagnosis and treatment of achromatopsia in China (2025) DOI: 10.3760/cma.j.cn115989-20250429-00140 Published: 2025 -10 -10 Citation Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Chinese Hereditary Ocular Disease Alliance, Expert Workgroup of Expert consensus on diagnosis and treatment of achromatopsia […]
Tag: Achromatopsia
Advances in genetic study of achromatopsia
Authors: Liang Xiaofang, Sui Ruifang, Dong Fangtian DOI: 10.3760/cma.j.issn.2095-0160.2015.08.020 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 764-767. Abstract [Download PDF] [Read Full Text] Achromatopsia is a kind of autosomal recessive cone disorder. It occurs with nystagmus, photophobia, inability of color […]
Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia
·Clinical Research· Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia Zhu Tian, Li Hui, Wei Xing, Wu Shijing, Sun Zixi, Sui Ruifang Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China […]
A novel mutation of CNGB3 gene in a Chinese achromatopsia family
Authors: Zhou Zhongqiang, Peng Haiying, Shi Pingling, Tang He, Wei Yuanmeng, Li Miao, Lei Bo, Huang Aiguo DOI: 10.3760/cma.j.cn115989-20191217-00549 Published 2021-03-10 Cite as Chin J Exp Ophthalmol, 2021, 39(3): 221-227. Abstract [View PDF] [Read Full Text] […]