A novel EYS c.6192-1G>A variant presents ideal base editing therapeutic opportunities [0.03%]
EYS基因c.6192-1G>A新变异提供了理想的碱基编辑治疗机会
Maria Kaukonen,Imran H Yusuf,Federica E Poli et al.
Maria Kaukonen et al.
Purpose: Causal variants in the EYS gene are a major cause of retinitis pigmentosa (RP). However, treatment development for EYS-RP has been hindered due to the large size of the coding sequence and transcriptional complex...
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants [0.03%]
埃及地图样角膜营养不良家系中CHST6分子特征研究发现复发性和新颖性变异体
Asmaa Kenawy Amin,Shahira Mahmoud,Mohamed Bahgat Goweida et al.
Asmaa Kenawy Amin et al.
Purpose: The study aimed to identify pathogenic variants in the CHST6 gene in a cohort of Egyptian patients diagnosed with macular corneal dystrophy (MCD). ...
Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review [0.03%]
γ-管蛋白环复合物缺陷所致神经眼科疾病：综述
Maya Helms,Emily S Levine,Lesley A Everett
Maya Helms
The gamma-tubulin ring complex (γ-TuRC) is a highly conserved and ubiquitously expressed complex necessary for proper microtubule nucleation and mitotic spindle function. While it is well established that the microtubule network plays a cr...
A bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncology [0.03%]
从精准肿瘤学的角度探究视网膜母细胞瘤分子预后标志物的研究进展综述
Irene Titin Darajati,Eddy Supriyadi,Petrus Gandi Purwosatrio et al.
Irene Titin Darajati et al.
In line with recent shifts to globe-saving and vision-preserving approaches in retinoblastoma (RB), evidence demonstrated that cell-free DNA (cfDNA) from aqueous humor (AH) has emerged as a method to gain RB tumor genetic information. This ...
Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings [0.03%]
NR2E3新变异型重新分类为可能致病的病例报告：兄弟姐妹中的常染色体隐性视网膜色素osa沉着症37型
Vincent Chen,Winston Lee,Eugene Yu-Chuan Kang et al.
Vincent Chen et al.
NR2E3 is a nuclear orphan receptor essential for photoreceptor development. Variants in the NR2E3 gene are associated with autosomal recessive retinitis pigmentosa 37 (RP37) and enhanced S-cone syndrome (ESCS). We report a novel NR2E3 varia...
The utility of aqueous humor liquid biopsy in retinoblastoma genetic analysis: a systematic review of concordance and influencing factors [0.03%]
房水液体活检在视网膜母细胞瘤遗传学分析中的应用价值：一致性及影响因素的系统评价
Irene Titin Darajati,Eddy Supriyadi,Petrus Gandi Purwosatrio et al.
Irene Titin Darajati et al.
Background: Current diagnostic methods in Retinoblastoma (RB) rely on clinical and radiological examinations, which remain suboptimal, as there are non-RB cases with clinical and radiological features mimicking RB, leadin...
A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family [0.03%]
埃及一家族的Oguchi综合征II型由G蛋白偶联受体激酶(_GRK1_)变异引起
Nada Fathy,Nagham M Elbagoury,Mohamed S Abdel-Hamid et al.
Nada Fathy et al.
Purpose: This study aimed to report the clinical, electrophysiological, and genetic findings in two siblings of an Egyptian family with type 2 Oguchi disease, with multimodal imaging performed for proper evaluation. ...
Goura Chattannavar,Lorena M Haefeli,Rebecca Procopio et al.
Goura Chattannavar et al.
Background: Ocular anomalies reported in FGFR2-related craniosynostosis include refractive errors, exophthalmos, and strabismus. Anterior segment anomalies have occasionally been reported in cases of FGFR2-related cranios...
IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing [0.03%]
携带新型错义突变的IMPG2相关视网膜营养不良及腺嘌呤碱基编辑治疗选择
Maram E A Abdalla Elsayed,Vincenzo Barone,Maria Kaukonen et al.
Maram E A Abdalla Elsayed et al.
We describe a novel missense variant in IMPG2 in a patient with early-onset rod-cone dystrophy with central macular atrophy and evaluate the potential of adenine base editing (ABE) as a therapeutic strategy. Ophthalmic evaluation included u...
Analysis of the impact of VEGF gene variants rs699947, rs833061, and rs3025039 on diabetic retinopathy in a case-control study [0.03%]
病例对照研究中血管内皮生长因子基因多态性rs699947、rs833061和rs3025039与中国糖尿病视网膜病变的相关性分析
Emre Taşkin,Mehmet Coşkun
Emre Taşkin
Introduction: The aim was to uncover potential associations between the VEGF gene variants rs699947, rs833061, and rs3025039 and diabetic retinopathy (DR). ...