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Foveal Hypoplasia in CRB1-Related Retinopathies

Rodriguez-Martinez, Ana Catalina; Higgins, Bethany Elora; Tailor-Hamblin, Vijay; Malka, Samantha; Cheloni, Riccardo; Collins, Alexander Mark; Bladen, John; ... Moosajee, Mariya; + view all (2023) Foveal Hypoplasia in CRB1-Related Retinopathies. International Journal of Molecular Sciences , 24 (18) , Article 13932. 10.3390/ijms241813932. Green open access

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Abstract

The CRB1 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 CRB1 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 CRB1-related retinopathy cohort. Patients with pathogenic biallelic CRB1 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 (p = 0.014). BCVA continued to worsen over time in both groups (p < 0.001), irrespective of FH. This study reports FH in a CRB1 cohort, supporting the role of CRB1 in foveal development. FH was associated with poorer BCVA and abnormal retinal morphology. Nonetheless, its presence did not alter the disease progression.

Type: Article
Title: Foveal Hypoplasia in CRB1-Related Retinopathies
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/ijms241813932
Publisher version: https://doi.org/10.3390/ijms241813932
Language: English
Additional information: © 2023 by the Authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Keywords: retinal dystrophy; LCA; early-onset severe retinal dystrophy; retinitis pigmentosa (RP); macular dystrophy (MD); cone-rod dystrophy (CORD); foveal hypoplasia (FH); optical coherence tomography (OCT); Crumbs cell polarity complex component 1 gene (CRB1)
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.ucl.ac.uk/id/eprint/10177034
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