Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy?
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 maculopa...
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Ovid Technologies (Wolters Kluwer Health)
2024
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Online Access: | http://dx.doi.org/10.1097/iae.0000000000004223 https://journals.lww.com/10.1097/IAE.0000000000004223 |
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crovidcr:10.1097/iae.0000000000004223 2024-09-15T18:28:43+00:00 Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? Grimaldi, Gabriela Menghini, Moreno Mahroo, Omar Webster, Andrew Michaelides, Michel Peng, Claudia Liang Egan, Catherine Tufail, Adnan 2024 http://dx.doi.org/10.1097/iae.0000000000004223 https://journals.lww.com/10.1097/IAE.0000000000004223 en eng Ovid Technologies (Wolters Kluwer Health) Retina ISSN 0275-004X journal-article 2024 crovidcr https://doi.org/10.1097/iae.0000000000004223 2024-08-19T04:19:53Z 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. Article in Journal/Newspaper Orca Ovid Retina |
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English |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Grimaldi, Gabriela Menghini, Moreno Mahroo, Omar Webster, Andrew Michaelides, Michel Peng, Claudia Liang Egan, Catherine Tufail, Adnan |
spellingShingle |
Grimaldi, Gabriela Menghini, Moreno Mahroo, Omar Webster, Andrew Michaelides, Michel Peng, Claudia Liang Egan, Catherine Tufail, Adnan Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
author_facet |
Grimaldi, Gabriela Menghini, Moreno Mahroo, Omar Webster, Andrew Michaelides, Michel Peng, Claudia Liang Egan, Catherine Tufail, Adnan |
author_sort |
Grimaldi, Gabriela |
title |
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
title_short |
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
title_full |
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
title_fullStr |
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
title_full_unstemmed |
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy? |
title_sort |
outer retinal columnar abnormalities (orca): a novel optical coherence tomography sign of crb1 maculopathy? |
publisher |
Ovid Technologies (Wolters Kluwer Health) |
publishDate |
2024 |
url |
http://dx.doi.org/10.1097/iae.0000000000004223 https://journals.lww.com/10.1097/IAE.0000000000004223 |
genre |
Orca |
genre_facet |
Orca |
op_source |
Retina ISSN 0275-004X |
op_doi |
https://doi.org/10.1097/iae.0000000000004223 |
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Retina |
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1810470168590024704 |