Ting Zhang1, Zhirong Wang1, Limei Sun1, Songshan Li1, Li Huang1, Chengxi Liu1, Chonglin Chen1, Xiaoling Luo1, Bilin Yu1, Xiaoyan Ding2.
Abstract
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. © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
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. © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Entities:
Keywords:
Genetics; Retina; Vitreous
Year: 2020
PMID： 32788330 DOI： 10.1136/bjophthalmol-2020-316226
Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638