Journal
BRITISH JOURNAL OF OPHTHALMOLOGY
Volume 105, Issue 12, Pages 1623-1631Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/bjophthalmol-2021-319228
Keywords
imaging; genetics; clinical trial; retina; dystrophy
Categories
Funding
- Wellcome Trust [099173/Z/12/Z]
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- Moorfields Eye Charity
- Retina UK
- Foundation Fighting Blindness
- Wellcome Trust [099173/Z/12/Z] Funding Source: Wellcome Trust
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Ophthalmic genetics has rapidly evolved in the past decade, particularly in translational medicine for inherited retinal diseases. This review discusses various methods for objectively and accurately assessing retinal structure in IRD patients, including standard imaging techniques and newer technologies, showing their utility in ongoing therapeutic efforts/trials.
Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these patients: colour fundus photography, fundus autofluorescence imaging and optical coherence tomography (OCT), as well as higher-resolution and/or newer technologies including OCT angiography, adaptive optics imaging, fundus imaging using a range of wavelengths, magnetic resonance imaging, laser speckle flowgraphy and retinal oximetry, illustrating their utility using paradigm genotypes with on-going therapeutic efforts/trials.
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