Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies
The <i>CRB1</i> gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD...
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MDPI AG
2023-09-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/18/13932 |
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| author | Ana Catalina Rodriguez-Martinez Bethany Elora Higgins Vijay Tailor-Hamblin Samantha Malka Riccardo Cheloni Alexander Mark Collins John Bladen Robert Henderson Mariya Moosajee |
| author_facet | Ana Catalina Rodriguez-Martinez Bethany Elora Higgins Vijay Tailor-Hamblin Samantha Malka Riccardo Cheloni Alexander Mark Collins John Bladen Robert Henderson Mariya Moosajee |
| author_sort | Ana Catalina Rodriguez-Martinez |
| collection | DOAJ |
| description | The <i>CRB1</i> gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in <i>CRB1</i> retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. Its role in foveal development has not yet been described; however, this retrospective study is the first to report foveal hypoplasia (FH) presence in a <i>CRB1</i>-related retinopathy cohort. Patients with pathogenic biallelic <i>CRB1</i> variants from Moorfields Eye Hospital, London, UK, were collected. Demographic, clinical data and SD-OCT analyses with FH structural grading were performed. A total of 15 (48%) patients had EOSRD/LCA, 11 (35%) MD, 3 (9%) CORD and 2 (6%) RP. FH was observed in 20 (65%; CI: 0.47–0.79) patients, all of whom were grade 1. A significant difference in BCVA between patients with FH and without was found (<i>p</i> = 0.014). BCVA continued to worsen over time in both groups (<i>p</i> < 0.001), irrespective of FH. This study reports FH in a <i>CRB1</i> cohort, supporting the role of <i>CRB1</i> in foveal development. FH was associated with poorer BCVA and abnormal retinal morphology. Nonetheless, its presence did not alter the disease progression. |
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| language | English |
| last_indexed | 2024-03-10T22:40:37Z |
| publishDate | 2023-09-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-c3cd52e4ba624c7ca8bdb2c1c9375b3b2023-11-19T11:05:20ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-09-0124181393210.3390/ijms241813932Foveal Hypoplasia in <i>CRB1</i>-Related RetinopathiesAna Catalina Rodriguez-Martinez0Bethany Elora Higgins1Vijay Tailor-Hamblin2Samantha Malka3Riccardo Cheloni4Alexander Mark Collins5John Bladen6Robert Henderson7Mariya Moosajee8UCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKKing’s College Hospital NHS Foundation Trust, Strand, London WC2R 2LS, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKThe <i>CRB1</i> gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in <i>CRB1</i> retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. Its role in foveal development has not yet been described; however, this retrospective study is the first to report foveal hypoplasia (FH) presence in a <i>CRB1</i>-related retinopathy cohort. Patients with pathogenic biallelic <i>CRB1</i> variants from Moorfields Eye Hospital, London, UK, were collected. Demographic, clinical data and SD-OCT analyses with FH structural grading were performed. A total of 15 (48%) patients had EOSRD/LCA, 11 (35%) MD, 3 (9%) CORD and 2 (6%) RP. FH was observed in 20 (65%; CI: 0.47–0.79) patients, all of whom were grade 1. A significant difference in BCVA between patients with FH and without was found (<i>p</i> = 0.014). BCVA continued to worsen over time in both groups (<i>p</i> < 0.001), irrespective of FH. This study reports FH in a <i>CRB1</i> cohort, supporting the role of <i>CRB1</i> in foveal development. FH was associated with poorer BCVA and abnormal retinal morphology. Nonetheless, its presence did not alter the disease progression.https://www.mdpi.com/1422-0067/24/18/13932retinal dystrophyLCAearly-onset severe retinal dystrophyretinitis pigmentosa (RP)macular dystrophy (MD)cone-rod dystrophy (CORD) |
| spellingShingle | Ana Catalina Rodriguez-Martinez Bethany Elora Higgins Vijay Tailor-Hamblin Samantha Malka Riccardo Cheloni Alexander Mark Collins John Bladen Robert Henderson Mariya Moosajee Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies International Journal of Molecular Sciences retinal dystrophy LCA early-onset severe retinal dystrophy retinitis pigmentosa (RP) macular dystrophy (MD) cone-rod dystrophy (CORD) |
| title | Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies |
| title_full | Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies |
| title_fullStr | Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies |
| title_full_unstemmed | Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies |
| title_short | Foveal Hypoplasia in <i>CRB1</i>-Related Retinopathies |
| title_sort | foveal hypoplasia in i crb1 i related retinopathies |
| topic | retinal dystrophy LCA early-onset severe retinal dystrophy retinitis pigmentosa (RP) macular dystrophy (MD) cone-rod dystrophy (CORD) |
| url | https://www.mdpi.com/1422-0067/24/18/13932 |
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