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Cited by 139Retinal Development and DisordersRetinal Diseases and TreatmentsOcular Diseases and Behçet’s Syndrome

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

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Rahman, Najiha, Georgiou, Michalis, Khan, Kamron N, Michaelides, Michel·2020·British Journal of Ophthalmology
DOI 10.1136/bjophthalmol-2019-315086PMC PMC7147237
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Abstract

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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Authors
Rahman, N., Georgiou, M., Khan, K. N., & Michaelides, M.
Affiliations
  • Moorfields Eye Hospital (GB)
  • St James's University Hospital (GB)
Corresponding author
Michaelides, Michel
ORCID
Venue
British Journal of Ophthalmology
Publisher
BMJ
Published
2019-11-08
Volume
104
Issue
4
Pages
451-460
ISSN
  • 0007-1161 (ISSN-L)
  • 1468-2079
DOI
10.1136/bjophthalmol-2019-315086
PMC
PMC7147237
OpenAlex
W2985197970
Cited by
139
References
3
Citations by year
2026: 18 · 2025: 26 · 2024: 24 · 2023: 16 · 2022: 18 · 2021: 23 · 2020: 12 · 2018: 2
FWCI
1.17
Type
journal article
Language
en
Open access
Licence
Locations
  • British Journal of Ophthalmology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Onassis Foundation
  • Leventis Foundation
  • Retina UK
  • The Foundation Fighting Blindness
  • Macular Society
  • Fight for Sight
  • The Wellcome Trust (099173/Z/12/Z)
  • Moorfields Eye Hospital Special Trustees
  • Moorfields Eye Charity
  • National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
Keywords
macular dystrophy, Stargardt disease, Best disease, X-linked retinoschisis, pattern dystrophy, Sorsby fundus dystrophy, retinal imaging, genotype-phenotype correlation, animal models of disease, disease progression assessment, clinical trial endpoints, gene therapy
MeSH terms
Diagnostic Imaging, Humans, Macular Degeneration, Molecular Biology, Therapeutics

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