Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy?

IF 2.3 2区医学 Q2 OPHTHALMOLOGY Retina-The Journal of Retinal and Vitreous Diseases Pub Date : 2024-08-01 DOI:10.1097/IAE.0000000000004223

Gabriela Grimaldi, Moreno Menghini, Omar Mahroo, Andrew Webster, Michel Michaelides, Claudia Liang Peng, Catherine Egan, Adnan Tufail

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Abstract

Purpose: To report a novel optical coherence tomography (OCT) sign in the context of CRB1-related maculopathy, termed outer retinal columnar abnormalities (ORCA).

Methods: Retrospective, multicenter observational case series of 14 eyes of 8 patients with molecularly confirmed CRB1-related maculopathy and ORCA. Multimodal imaging scans and medical records patients with CRB1-related maculopathy were reviewed. Outcome measures included best-corrected visual acuity (BCVA), central subfield thickness on spectral-domain OCT (SD-OCT), presence of ORCAs and analysis of their change in appearance over time.

Results: At baseline, mean age was 18 +/- 10 years (range 9-36). All patients had an isolated macular dystrophy except for 1 case harboring a triallelic pathogenic variant. Variant c.498_506del was found in 9 cases (88%). At presentation, ORCA were visible on macular SD-OCT in all cases as multiform, vertical hyperreflective columnar alterations extending from the ellipsoid to the outer plexiform layer, with a variable degree of hyporeflective cystic spaces in the outer and inner nuclear layers. Over 6 +/- 4.7 follow-up years, the presence of ORCA varied greatly with a decrease in ORCA associated with sequential development of retinal atrophy.

Conclusions: A high suspicion for CRB1-associated retinal dystrophy should arise in the presence of ORCA on SD-OCT, prompting genetic testing.

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外视网膜柱状异常（ORCA）：CRB1 黄斑病变的新型光学相干断层扫描征象？

目的：报告 CRB1 相关黄斑病变中的一种新的光学相干断层扫描（OCT）征象，即视网膜外柱状异常（ORCA）：回顾性、多中心观察病例系列：对8名经分子证实患有CRB1相关黄斑病变和ORCA的患者的14只眼睛进行观察。回顾CRB1相关黄斑病变患者的多模态成像扫描和医疗记录。结果测量包括最佳矫正视力（BCVA）、光谱域OCT（SD-OCT）中央子场厚度、ORCA的存在及其随时间的外观变化分析：基线时的平均年龄为 18 +/- 10 岁（9-36 岁不等）。所有患者均为孤立性黄斑营养不良，只有一例患者携带一个试配子致病变体。9例（88%）中发现了c.498_506del变异体。发病时，所有病例的黄斑 SD-OCT 均可见多形性、垂直的高反射柱状改变，从椭圆体延伸至丛状外层，核外层和核内层存在不同程度的低反射囊腔。在6 +/- 4.7年的随访中，ORCA的存在差异很大，ORCA的减少与视网膜萎缩的相继发展有关：结论：在SD-OCT上出现ORCA时，应高度怀疑CRB1相关性视网膜营养不良，并进行基因检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Retina-The Journal of Retinal and Vitreous Diseases 医学-眼科学

CiteScore

5.70

自引率

9.10%

发文量

554

审稿时长

3-6 weeks

期刊介绍： RETINA® focuses exclusively on the growing specialty of vitreoretinal disorders. The Journal provides current information on diagnostic and therapeutic techniques. Its highly specialized and informative, peer-reviewed articles are easily applicable to clinical practice. In addition to regular reports from clinical and basic science investigators, RETINA® publishes special features including periodic review articles on pertinent topics, special articles dealing with surgical and other therapeutic techniques, and abstract cards. Issues are abundantly illustrated in vivid full color. Published 12 times per year, RETINA® is truly a “must have” publication for anyone connected to this field.

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