David J Browning
David J Browning
FOXC1 Duplications-New Mutations and Clinical Features in an Old Glaucoma Gene [0.03%]
FOXC1重复:青光眼老基因的新突变及临床特征
John H Fingert
John H Fingert
Allison I Summers,Stanley W Hatch,Sarah R Hatt et al.
Allison I Summers et al.
Importance: Amblyopia is the leading cause of monocular decreased best-corrected vision in children. Early detection and intervention are key for optimal treatment outcomes; however, limited access to pediatric eye specia...
Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma [0.03%]
FOXC1重复与青少年型开角型青光眼的关联性研究
Giorgina E Maxwell,Joshua M Schmidt,Antonia Kolovos et al.
Giorgina E Maxwell et al.
Importance: While FOXC1 single-nucleotide variants and deletions are well-established causes of Axenfeld-Rieger syndrome, few FOXC1 duplications have been reported. This study investigated families with duplications encom...
Wu Xiang,Zhihao Jiang,Yantao Wei
Wu Xiang
Vitiligolike Leukoderma Associated With Chronic Unilateral Topical Ophthalmic Atropine and Dorzolamide [0.03%]
慢性单侧眼用阿托品和多佐胺致维生素样白斑症病例报告
Francesco Bruni,Zaid Alsafi,Ali Abbas
Francesco Bruni
Stephanie M Llop,Swati L Narayan
Stephanie M Llop
Xi He,Yu Huang,Denis Plotnikov et al.
Xi He et al.
Importance: Elevated intraocular pressure (IOP) is a risk factor for primary open-angle glaucoma, and genetic risk scores hold promise as a tool for screening for ocular hypertension. However, genetic risk scores for IOP ...
Different Predictors for Components of Spaceflight-Associated Neuro-Ocular Syndrome [0.03%]
不同的空间飞行相关神经眼综合征预测指标
Sarah Mirza,Mimi Lan,Bofan Chen et al.
Sarah Mirza et al.
Anaïs Le Ven,Marie-Charlotte Villy,Marine Le Mentec et al.
Anaïs Le Ven et al.
Importance: MBD4 monoallelic germline pathogenic and likely pathogenic variants have recently been identified as predisposing to uveal melanoma, a rare primary intraocular tumor, with an estimated 9.15-fold increased risk...