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Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimod...

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Autores principales: Rahman, Najiha, Georgiou, Michalis, Khan, Kamron N, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147237/
https://www.ncbi.nlm.nih.gov/pubmed/31704701
http://dx.doi.org/10.1136/bjophthalmol-2019-315086
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author Rahman, Najiha
Georgiou, Michalis
Khan, Kamron N
Michaelides, Michel
author_facet Rahman, Najiha
Georgiou, Michalis
Khan, Kamron N
Michaelides, Michel
author_sort Rahman, Najiha
collection PubMed
description Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype–phenotype and structure–function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs.
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spelling pubmed-71472372020-04-15 Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options Rahman, Najiha Georgiou, Michalis Khan, Kamron N Michaelides, Michel Br J Ophthalmol Review Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype–phenotype and structure–function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs. BMJ Publishing Group 2020-04 2019-11-08 /pmc/articles/PMC7147237/ /pubmed/31704701 http://dx.doi.org/10.1136/bjophthalmol-2019-315086 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
Rahman, Najiha
Georgiou, Michalis
Khan, Kamron N
Michaelides, Michel
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title_full Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title_fullStr Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title_full_unstemmed Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title_short Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
title_sort macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147237/
https://www.ncbi.nlm.nih.gov/pubmed/31704701
http://dx.doi.org/10.1136/bjophthalmol-2019-315086
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