Background/Aims To describe some novel vitreoretinal microstructural findings in patients with mild familial exudative vitreoretinopathy (FEVR) on ultra-wide-field scanning laser ophthalmoscopy (UWF-SLO) and UWF optical coherence tomography (UWF-OCT) and to evaluate their clinical significance.
Methods A total of 32 patients and 32 healthy controls were studied. An additional independent 40 FEVR patients, 44 patients with non-FEVR retinopathies and 40 healthy controls participated in a diagnostic test to validate the abilities of novel findings in FEVR screening.
Results A novel anatomic change, named Temporal Mid-Peripheral Vitreoretinal Interface Abnormality (TEMPVIA), was found on UWF-SLO in 88.3% of FEVR patients and in none of the healthy controls. The clinical significance of TEMPVIA was further validated by a diagnostic test in new independent cases, with satisfying sensitivity (91.5%) and specificity (98.8%) and Youden Index 0.90. In addition to foveal hypoplasia, some previously unrecognised, novel clinical changes in FEVR, for instance, retinoschisis, focal retinal thickening, sudden thinning of the retina and retinal ridge, were identified using UWF-OCT.
Conclusion The results of this study have led to an update of the clinical spectrum of FEVR and have improved our understanding of its pathogenesis. TEMPVIA is therefore suggested to be a useful biomarker in the screening strategy for mild FEVR.
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TZ and ZW contributed equally to this work.
Contributors Study concept and design and drafting of the manuscript: XD, TZ and ZW. Data collection: TZ, ZW, CL, XL, CC and BY. Analysis and interpretation of the data: TZ, LS, SL, LH and XD. Revision of the manuscript: XD and TZ. Making the decision to submit the paper for publication: TZ, ZW, LS, SL, LH, CL, CC, XL, BY and XD.
Funding Supported by grants from the National Natural Science Foundation of China (no. 81900896), the Fundamental Research Funds of State Key Laboratory of Ophthalmology, research funds of Sun Yat-sen University (15ykjxc22d; Guangzhou, Guangdong, China) and Science and Technology Program Guangzhou, China (201803010031; Guangzhou, Guangdong, China).
Competing interests None declared.
Ethics approval The study was conducted in accordance with the tenets of the Declaration of Helsinki. The protocol was approved by the Ethics Committee of Zhongshan Ophthalmic Center (2014MEKY048), Sun Yat-sen University.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article.