Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging
Objective Late-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.Methods This retrospective stu...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2023-10-01
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| Series: | BMJ Open Ophthalmology |
| Online Access: | https://bmjophth.bmj.com/content/8/1/e001370.full |
| _version_ | 1797371021648461824 |
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| author | Mariantonia Ferrara Ajay Kotagiri Holly Joan Duncan Thomas W McNally |
| author_facet | Mariantonia Ferrara Ajay Kotagiri Holly Joan Duncan Thomas W McNally |
| author_sort | Mariantonia Ferrara |
| collection | DOAJ |
| description | Objective Late-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.Methods This 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.Results A total of 13 eyes of 9 patients with L-ORD had outer retinal corrugations identified on OCT scans.Conclusion Outer 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. |
| first_indexed | 2024-03-08T18:12:50Z |
| format | Article |
| id | doaj.art-90e01f0f21e24bc0aa81ca1208dc1c39 |
| institution | Directory Open Access Journal |
| issn | 2397-3269 |
| language | English |
| last_indexed | 2024-03-08T18:12:50Z |
| publishDate | 2023-10-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open Ophthalmology |
| spelling | doaj.art-90e01f0f21e24bc0aa81ca1208dc1c392023-12-31T22:45:08ZengBMJ Publishing GroupBMJ Open Ophthalmology2397-32692023-10-018110.1136/bmjophth-2023-001370Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imagingMariantonia Ferrara0Ajay Kotagiri1Holly Joan Duncan2Thomas W McNally3Ophthalmology, University of Malaga Faculty of Medicine, Malaga, SpainOphthalmology, Sunderland Eye Infirmary, Sunderland, UKOphthalmology, Sunderland Eye Infirmary, Sunderland, UKOphthalmology, Sunderland Eye Infirmary, Sunderland, UKObjective Late-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.Methods This 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.Results A total of 13 eyes of 9 patients with L-ORD had outer retinal corrugations identified on OCT scans.Conclusion Outer 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.https://bmjophth.bmj.com/content/8/1/e001370.full |
| spellingShingle | Mariantonia Ferrara Ajay Kotagiri Holly Joan Duncan Thomas W McNally Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging BMJ Open Ophthalmology |
| title | Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging |
| title_full | Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging |
| title_fullStr | Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging |
| title_full_unstemmed | Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging |
| title_short | Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging |
| title_sort | outer retinal corrugations in late onset retinal degeneration a diagnostic finding demonstrated with multimodal imaging |
| url | https://bmjophth.bmj.com/content/8/1/e001370.full |
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