The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions. Standardised measures of tissue loss, tissue function and...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser:	Al-Khuzaei, S, Shah, M, Foster, CR, Yu, J, Broadgate, S, Halford, S, Downes, SM
Format:	Journal article
Sprache:	English
Veröffentlicht:	SAGE Publications 2021

Ähnliche Einträge

An overview of the genetics of ABCA4 retinopathies, an evolving story
von: Al-Khuzaei, S, et al.
Veröffentlicht: (2021)

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
von: Broadgate, S, et al.
Veröffentlicht: (2017)

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy
von: Broadgate, S, et al.
Veröffentlicht: (2018)

Progression of ABCA4-related retinopathy: prognostic value of demographic, functional, genetic, and imaging parameters
von: Müller, PL, et al.
Veröffentlicht: (2020)

Novel pathogenic sequence variants in NR2E3 and clinical findings in three patients
von: Al-Khuzaei, S, et al.
Veröffentlicht: (2020)

The Abca4-/- mouse model of Stargardt disease – phenotype and therapeutic strategies
von: Charbel Issa, P
Veröffentlicht: (2014)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
von: Al-Khuzaei, S, et al.
Veröffentlicht: (2021)

Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL
von: Downes, SM, et al.
Veröffentlicht: (2020)

Hydroxychloroquine retinopathy.
von: Yusuf, I, et al.
Veröffentlicht: (2017)

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
von: Downes, S, et al.
Veröffentlicht: (2012)

Low Vision and Blindness from Diabetic Retinopathy
von: Scanlon, P
Veröffentlicht: (2009)

Multimodal characterisation of the infant response to retinopathy of prematurity screening and treatment
von: Buckle, M
Veröffentlicht: (2021)

The incidence, monitoring coverage and clinical characteristics of hydroxychloroquine retinopathy in the United Kingdom
von: Yusuf, IH, et al.
Veröffentlicht: (2024)

Future Advances in the Management of Diabetic Retinopathy
von: Scanlon, P
Veröffentlicht: (2009)

Sickle cell retinopathy and hemoglobinopathies
von: Lutty, G, et al.
Veröffentlicht: (2007)

Hydroxychloroquine retinopathy: an emerging problem.
von: Latasiewicz, M, et al.
Veröffentlicht: (2017)

Lentiviral gene therapy for the treatment of ABCA3-mediated surfactant deficiency
von: Ruffle, AR
Veröffentlicht: (2024)

Are vision language models multimodal learners?
von: Lee, Gyeonggeon
Veröffentlicht: (2024)

Colour vision testing for diabetic retinopathy: a systematic review of diagnostic accuracy and economic evaluation.
von: Rodgers, M, et al.
Veröffentlicht: (2009)

Impact of diabetic retinopathy on sleep, mood, and quality of life.
von: Morjaria, R, et al.
Veröffentlicht: (2019)

Multimodal Vision for 3D Scene Interpretation
Veröffentlicht: (2023)

Effectiveness of Multimodal imaging for the Evaluation of Retinal oedema And new vesseLs in Diabetic retinopathy (EMERALD)
von: Lois, N, et al.
Veröffentlicht: (2019)

Molecular mechanisms of diabetic retinopathy, general preventive strategies and novel therapeutic targets
von: Safi, S.Z., et al.
Veröffentlicht: (2013)

An AAV dual vector strategy ameliorates the Stargardt phenotype in adult Abca4−/− mice
von: McClements, ME, et al.
Veröffentlicht: (2018)

Genetics of the Retinal Dystrophies
von: Merepa, S, et al.
Veröffentlicht: (2018)

Association of clinical and genetic heterogeneity with BEST1 sequence variations
von: Shah, M, et al.
Veröffentlicht: (2020)

Recent genetic findings in schizophrenia and their therapeutic relevance.
von: Harrison, P
Veröffentlicht: (2014)

Investigating the physiological function of Alzheimer’s disease risk gene Abca7 in the central nervous system
von: Beja-Glasser, Victoria
Veröffentlicht: (2023)

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"
von: Cundy, O, et al.
Veröffentlicht: (2020)

Diabetic Retinopathy
von: Scanlon, P
Veröffentlicht: (2010)

Diabetic retinopathy
von: Scanlon, P
Veröffentlicht: (2010)

The future of neuroethics and the relevance of the law
von: Ligthart, S, et al.
Veröffentlicht: (2019)

Randomized trial of cyclophosphamide versus methotrexate for induction of remission in "non-renal" AbCA-associated vasculitis.
von: de Groot, K, et al.
Veröffentlicht: (2003)

Biological and therapeutic relevance of nonreplicative DNA polymerases to cancer.
von: Parsons, J, et al.
Veröffentlicht: (2013)

Therapeutic interventions: an Islamic perspective
von: Rahman, Mohammad Tariqur, et al.
Veröffentlicht: (2008)

Comparative analysis of vision transformers and conventional convolutional neural networks in detecting referable diabetic retinopathy
von: Goh, Jocelyn Hui Lin, et al.
Veröffentlicht: (2024)

A nationwide survey of hydroxychloroquine retinopathy presenting to the hospital eye service in the United Kingdom
von: Yusuf, IY, et al.
Veröffentlicht: (2022)

Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism.
von: Katzov, H, et al.
Veröffentlicht: (2004)

Rethinking vision transformer and masked autoencoder in multimodal face anti-spoofing
von: Yu, Zitong, et al.
Veröffentlicht: (2024)

Stage R3: Proliferative Diabetic Retinopathy and Advanced Diabetic Retinopathy
von: Scanlon, P
Veröffentlicht: (2009)