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.
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Contributors Study conception and design: AMH, AW, AMD, MM. Collection of data: AMH, AM, JSG, JMNDR, VT, SH. Statistical analysis: AMH. Interpretation of data: AMH, AMD, MM. Writing the article: AMH. Critical revision of the article: AMH, AM, JSG, JMNDR, VT, SH, AW, AMD, MM. Final approval of the article: AMH, AM, JSG, JMNDR, VT, SH, ARW, AMD, MM.
Funding This work was supported by Wellcome Trust Career Development grant number 205174/Z/16/Z, National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration Award as well as the NIHR Research Centre at Moorfields and UCL Institute of Ophthalmology.
Disclaimer Funders had no role in study design, collection, analysis and interpretation of the data, writing the article or in the decision to submit the paper for publication.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data are available on request.
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