Structural evaluation in inherited retinal diseases

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 assesse...

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Bibliographic Details
Published in:	British journal of ophthalmology Vol. 105; no. 12; p. 1623
Main Authors:	Daich Varela, Malena, Esener, Burak, Hashem, Shaima A, Cabral de Guimaraes, Thales Antonio, Georgiou, Michalis, Michaelides, Michel
Format:	Journal Article
Language:	English
Published:	England 01-12-2021
Subjects:	Diagnostic Techniques, Ophthalmological Fluorescein Angiography Fundus Oculi Humans Retina - pathology Retinal Diseases - diagnosis Retinal Diseases - genetics Retinal Diseases - pathology Tomography, Optical Coherence - methods clinical trial genetics dystrophy retina imaging
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Summary:	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.
ISSN:	1468-2079
DOI:	10.1136/bjophthalmol-2021-319228