Yang Jee Myung, Lee Beom Hee, Nam Gi-Byoung, Kim June-Gone, Lee Joo Yong
Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.
Genes (Basel). 2020 Nov 16;11(11):1356. doi: 10.3390/genes11111356.
Peripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood.
In this report, we present long-term follow-up data (12 years of follow-up) regarding peripheral retinopathy in an Asian woman and her mother who were both diagnosed with Danon disease. Both patients showed a novel nonsense mutation of the gene (c.123 of exon 2). During the follow-up period, no evident extension of peripheral pigmented lesions or visual field progression was observed.
We report, for the first time, the long-term longitudinal follow-up of Danon disease-related retinopathy in an Asian patient featuring an indolent macular-sparing peripheral lesion.
外周色素沉着改变在Danon病女性患者中很常见；然而，目前缺乏对这种疾病视网膜变化的纵向观察研究，且其长期视觉预后尚不清楚。
在本报告中，我们展示了一名亚洲女性及其母亲的长期随访数据（随访12年），她们均被诊断为Danon病，患有外周视网膜病变。两名患者均显示该基因存在一种新的无义突变（外显子2的c.123）。在随访期间，未观察到外周色素沉着病变有明显扩展或视野进展。
我们首次报告了一名亚洲患者与Danon病相关视网膜病变的长期纵向随访情况，其特征为黄斑区保留的惰性外周病变。
