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Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

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).

Publication metadata

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


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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Funder referenceFunder name
European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder-StarT (813490)
HRCI HRB Joint Funding Scheme 2020-007
Fighting Blindness Ireland
Pro Retina Deutschland
Stichting Blindenhulp
Stichting tot Verbetering van het Lot der Blinden
Stichting voor Ooglijders
Stichting Oogfonds Nederland (UZ 2020-17),
UZ 2020-17