Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

Diabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study comparing the genetic profiles of patients wit...

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Main Authors: Elizabeth Pearce, Sobha Sivaprasad, Suzanne Broadgate, Christine Kiire, Susan M. Downes, Stephanie Halford, Victor Chong
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Vision
Subjects:
Online Access:https://www.mdpi.com/2411-5150/7/1/18
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author Elizabeth Pearce
Sobha Sivaprasad
Suzanne Broadgate
Christine Kiire
Susan M. Downes
Stephanie Halford
Victor Chong
author_facet Elizabeth Pearce
Sobha Sivaprasad
Suzanne Broadgate
Christine Kiire
Susan M. Downes
Stephanie Halford
Victor Chong
author_sort Elizabeth Pearce
collection DOAJ
description Diabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study comparing the genetic profiles of patients with no DR vs. non-proliferative DR (NPDR) focusing on intraretinal microvascular abnormalities (IRMA) and venous beading (VB) in Caucasians. A total of 596 participants were recruited to the study; 199 with moderate/severe NPDR and 397 with diabetes for at least 5 years without DR. Sixty-four patients were excluded due to technical issues. In total, 532 were analysed; 181 and 351 were in the NPDR group and no DR group, respectively. Those with severe IRMA and VB had distinctly different genetic profiles from each other and from the no DR group, which further supports the theory that these two features of DR might have different etiologies. This also suggests that IRMA and VB are independent risk factors for the development of PDR and may have different pathophysiologies. If these findings are confirmed in larger studies, this could pave the way for personalised treatment options for those more at risk of developing different features of NPDR.
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spelling doaj.art-a722c688f4c54904855b627f42b39d182023-11-17T14:24:56ZengMDPI AGVision2411-51502023-03-01711810.3390/vision7010018Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic RetinopathyElizabeth Pearce0Sobha Sivaprasad1Suzanne Broadgate2Christine Kiire3Susan M. Downes4Stephanie Halford5Victor Chong6King’s College Hospital NHS Trust, London SE5 9RS, UKNIHR Moorfields Biomedical Research Centre, Moorfields Eye Hospital, London EC1V 2PD, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UKUCL Institute of Ophthalmology, London EC1V 9EL, UKDiabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study comparing the genetic profiles of patients with no DR vs. non-proliferative DR (NPDR) focusing on intraretinal microvascular abnormalities (IRMA) and venous beading (VB) in Caucasians. A total of 596 participants were recruited to the study; 199 with moderate/severe NPDR and 397 with diabetes for at least 5 years without DR. Sixty-four patients were excluded due to technical issues. In total, 532 were analysed; 181 and 351 were in the NPDR group and no DR group, respectively. Those with severe IRMA and VB had distinctly different genetic profiles from each other and from the no DR group, which further supports the theory that these two features of DR might have different etiologies. This also suggests that IRMA and VB are independent risk factors for the development of PDR and may have different pathophysiologies. If these findings are confirmed in larger studies, this could pave the way for personalised treatment options for those more at risk of developing different features of NPDR.https://www.mdpi.com/2411-5150/7/1/18non-proliferative diabetic retinopathyintraretinal microvascular abnormalitiesvenous beadingsingle nucleotide polymorphisms
spellingShingle Elizabeth Pearce
Sobha Sivaprasad
Suzanne Broadgate
Christine Kiire
Susan M. Downes
Stephanie Halford
Victor Chong
Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
Vision
non-proliferative diabetic retinopathy
intraretinal microvascular abnormalities
venous beading
single nucleotide polymorphisms
title Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
title_full Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
title_fullStr Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
title_full_unstemmed Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
title_short Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy
title_sort intraretinal microvascular abnormalities and venous beading have different genetic profiles in caucasian patients with non proliferative diabetic retinopathy
topic non-proliferative diabetic retinopathy
intraretinal microvascular abnormalities
venous beading
single nucleotide polymorphisms
url https://www.mdpi.com/2411-5150/7/1/18
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