Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging

Author:

Duncan Holly JoanORCID,McNally Thomas WORCID,Ferrara Mariantonia,Kotagiri Ajay

Abstract

ObjectiveLate-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal degeneration that presents in the sixth decade and leads to severe visual loss. The objective of this paper is to describe outer retinal corrugations as a diagnostic feature of L-ORD.MethodsThis retrospective study reviewed consecutive patients diagnosed with L-ORD, confirmed through complete ophthalmic examination, multimodal imaging and genetic tests. Multimodal imaging investigations included spectral domain-optical coherence tomography (SD-OCT) and ultra-wide-field colour and autofluorescence fundus photographs.ResultsA total of 13 eyes of 9 patients with L-ORD had outer retinal corrugations identified on OCT scans.ConclusionOuter retinal corrugations may be a diagnostic finding for L-ORD. The detection of this sign may aid diagnosis and characterisation of this disease and help in the differential diagnosis with other acquired pathologies.

Funder

Sunderland Eye Infirmary

Publisher

BMJ

Subject

Ophthalmology

Reference21 articles.

1. Kelly J , Stumpf A . Late-onset retinal degeneration - about the disease - genetic and rare diseases information center. Genet Rare Dis Inf Cent 2004. Available: https://rarediseases.info.nih.gov/diseases/4357/late-onset-retinal-degeneration [Accessed 31 Aug 2022].

2. Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration

3. Longitudinal structural changes in late-onset retinal degeneration;Cukras;Retina,2016

4. Quantitative analysis of longitudinal changes in multimodal imaging of late-onset retinal degeneration;Vanderford;Retina,2021

5. Reticular pseudodrusen in late-onset retinal degeneration;Borooah;Ophthalmology Retina,2021

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