Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.

IF 0.5 Q4 OPHTHALMOLOGY
Josephine R Seela, Jade Y Moon, Sandra R Montezuma
{"title":"Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.","authors":"Josephine R Seela, Jade Y Moon, Sandra R Montezuma","doi":"10.1177/24741264251340108","DOIUrl":null,"url":null,"abstract":"<p><p><b>Purpose:</b> To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of <i>SGSH</i>, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. <b>Conclusions:</b> This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251340108"},"PeriodicalIF":0.5000,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065709/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of VitreoRetinal Diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/24741264251340108","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose: To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. Methods: A single case was evaluated. Results: A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of SGSH, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. Conclusions: This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.

罕见的减毒粘多糖病IIIA型表现为孤立性色素性视网膜炎。
目的:描述一名成年期孤立性视网膜病变患者,发现其患有IIIA型粘多糖病。方法:对单个病例进行评价。结果:男性,36岁,周围视力及夜视恶化5年。最初的检查和测试引起了对杆状锥体营养不良的关注。Invitae遗传性视网膜疾病小组的基因检测显示,SGSH有2种变体,与IIIA型粘多糖病有关。实验室检测显示肝素- n-硫酸酯酶水平低,硫酸肝素水平升高。这些结果和对文献的全面回顾支持轻度减毒非神经性粘多糖病IIIA型的诊断。结论:这个案例强调了与遗传咨询师合作的必要性,以及提供者在解释基因检测结果时的临床敏锐度的价值。此外,当成人患者出现新发孤立性视网膜色素变性时,考虑IIIA型粘多糖病的重要性被强调。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
1.20
自引率
16.70%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信