Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation

Author:

Wang Xun1,Zheng Cong1,Liu Wen1,Yang Hui1ORCID

Affiliation:

1. Department of Fundus Diseases, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 S. Xianlie Road, Guangzhou 510060, China

Abstract

To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis. Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days. The patient had a history of night blindness, a mottled retina without pigmentation, extinguished electroretinographic response, tritanopia, and an absent ellipsoid zone outside the macula fovea by optical coherence tomography in both eyes. His condition was diagnosed as retinitis pigmentosa (RP) with idiopathic demyelinating optic neuritis (IDON). After corticosteroid therapy, visual acuity recovered to OD: 0.5 and OS: 0.4. Genetic analysis revealed a G985S variant in the oral-facial-digital syndrome 1 gene. Ophthalmologists should pay attention to the existence of other complications in patients with RP who suffer a sudden decrease in vision. A gene survey can help clarify this diagnosis. To our knowledge, this is the first report of a patient with RP and ON, as well as genetic testing results. Nevertheless, the pathogenicity of the variant needs further confirmation.

Publisher

Hindawi Limited

Subject

Ocean Engineering

Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome;Genes;2023-01-27

2. A novel non-sense variant in the OFD1 gene caused Joubert syndrome;Frontiers in Genetics;2023-01-10

3. Retinal Degeneration Animal Models in Bardet–Biedl Syndrome and Related Ciliopathies;Cold Spring Harbor Perspectives in Medicine;2023-01

4. OFD1 : One gene, several disorders;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-02-02

5. Retinitis pigmentosa and acute vision loss due to optic disc edema;Journal Français d'Ophtalmologie;2021-06

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3