Grimaldi, Gabriela;
Menghini, Moreno;
Mahroo, Omar;
Webster, Andrew;
Michaelides, Michel;
Peng, Claudia Liang;
Egan, Catherine;
(2024)
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy?
Retina
10.1097/IAE.0000000000004223.
(In press).
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outer_retinal_columnar_abnormalities__orca___a.749.pdf - Accepted Version Access restricted to UCL open access staff until 2 August 2025. Download (2MB) |
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.
| Type: | Article |
|---|---|
| Title: | Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
| Location: | United States |
| DOI: | 10.1097/IAE.0000000000004223 |
| Publisher version: | http://dx.doi.org/10.1097/iae.0000000000004223 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10195520 |
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