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Tytuł:
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Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A .
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Autorzy:
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Hagag AM; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Mitsios A; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Gill JS; Institute of Ophthalmology, University College London, London, UK.
Nunez Do Rio JM; Institute of Ophthalmology, University College London, London, UK.
Theofylaktopoulos V; Institute of Ophthalmology, University College London, London, UK.
Houston S; Institute of Ophthalmology, University College London, London, UK.
Webster AR; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Dubis AM; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Moosajee M; Institute of Ophthalmology, University College London, London, UK .; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
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Źródło:
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The British journal of ophthalmology [Br J Ophthalmol] 2020 Apr; Vol. 104 (4), pp. 480-486. Date of Electronic Publication: 2019 Jul 02.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: Jan. 1992- : London : BMJ Pub. Group
Original Publication: 1917-Dec. 1991: London : British Medical Association
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MeSH Terms:
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Mutation*
Extracellular Matrix Proteins/*genetics
Myosin VIIa/*genetics
Retinal Diseases/*diagnosis
Retinal Vessels/*pathology
Usher Syndromes/*pathology
Adult ; Choroid/blood supply ; Choroid/diagnostic imaging ; Female ; Fluorescein Angiography ; Humans ; Male ; Middle Aged ; Retinal Diseases/genetics ; Retinal Diseases/physiopathology ; Retinal Vessels/diagnostic imaging ; Tomography, Optical Coherence ; Usher Syndromes/diagnostic imaging ; Usher Syndromes/genetics ; Visual Acuity/physiology ; Visual Field Tests ; Young Adult
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Grant Information:
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205174/Z/16/Z United Kingdom WT_ Wellcome Trust
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Contributed Indexing:
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Keywords: degeneration; imaging; retina
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Substance Nomenclature:
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0 (Extracellular Matrix Proteins)
0 (MYO7A protein, human)
0 (Myosin VIIa)
0 (USH2A protein, human)
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SCR Disease Name:
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Usher syndrome, type 2A
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Entry Date(s):
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Date Created: 20190704 Date Completed: 20201030 Latest Revision: 20201030
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Update Code:
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20240104
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DOI:
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10.1136/bjophthalmol-2019-314243
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PMID:
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31266775
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Aims: Using optical coherence tomography angiography (OCTA) to characterise microvascular changes in the retinal plexuses and choriocapillaris (CC) of patients with MYO7A and USH2A mutations and correlate with genotype, retinal structure and function.
Methods: Twenty-seven patients with molecularly confirmed USH2A (n=21) and MYO7A (n=6) mutations underwent macular 6×6 mm OCTA using the AngioVue. Heidelberg spectral-domain OCT scans and MAIA microperimetry were also performed, the preserved ellipsoid zone (EZ) band width and mean macular sensitivity (MS) were recorded. OCTA of the inner retina, superficial capillary plexus (SCP), deep capillary plexus (DCP) and CC were analysed. Vessel density (VD) was calculated from the en face OCT angiograms of retinal circulation.
Results: Forty-eight eyes with either USH2A (n=37, mean age: 34.4±12.2 years) or MYO7A (n=11, mean age: 37.1±12.4 years), and 35 eyes from 18 age-matched healthy participants were included. VD was significantly decreased in the retinal circulation of patients with USH2A and MYO7A mutations compared with controls (p<0.001). Changes were observed in both the SCP and DCP, but no differences in retinal perfusion were detected between USH2A and MYO7A groups. No vascular defects were detected in CC of the USH2A group, but peripheral defects were detected in older MYO7A patients from the fourth decade of life. VD in the DCP showed strong association with MS and EZ width (Spearman's rho =0.64 and 0.59, respectively, p<0.001).
Conclusion: OCTA was able to detect similar retinal microvascular changes in patients with USH2A and MYO7A mutations. The CC was generally affected in MYO7A mutations. OCT angiography may further enhance our understanding of inherited eye diseases and their phenotype-genotype associations.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
