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Lookup NU author(s): David Steel
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2023 by the authors.Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to examine 57 UK macular dystrophy cases, achieving a high solve rate of 63.2% (36/57). Among 27 bi-allelic STGD1 cases, only three novel ABCA4 variants were identified, illustrating that the majority of ABCA4 variants in Caucasian STGD1 cases are currently known. We examined cases with ABCA4-associated disease in detail, comparing our results with a previously reported variant grading system, and found this model to be accurate and clinically useful. In this study, we showed that ABCA4-associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36).
Author(s): Mc Clinton B, Corradi Z, McKibbin M, Panneman DM, Roosing S, Boonen EGM, Ali M, Watson CM, Steel DH, Cremers FPM, Inglehearn CF, Hitti-Malin RJ, Toomes C
Publication type: Article
Publication status: Published
Journal: Genes
Year: 2023
Volume: 14
Issue: 1
Print publication date: 01/01/2023
Online publication date: 11/01/2023
Acceptance date: 07/01/2023
Date deposited: 07/02/2023
ISSN (electronic): 2073-4425
Publisher: MDPI
URL: https://doi.org/10.3390/genes14010191
DOI: 10.3390/genes14010191
PubMed id: 36672932
Notes: This article belongs to the Special Issue Genetics and Pathogenesis of Inherited Eye Diseases
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