Systemic comorbidities before and after onset in Leber hereditary optic neuropathy: a descriptive study [0.03%]
Yasuyuki Takai,Akiko Yamagami,Hitoshi Ishikawa
Yasuyuki Takai
Introduction: lthough Leber hereditary optic neuropathy (LHON) is primarily an optic neuropathy, systemic comorbidities across the disease timeline have not been systematically described. We aimed to describe systemic comorbidities document...
Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations [0.03%]
双侧婴幼儿角膜混浊的分子确诊型Van den Ende-Gupta综合征并发SCARF2始祖变异病例报告及眼部表现综述
Faisal A AlTahan,Hala M Nassim Ali
Faisal A AlTahan
Purpose: Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive disorder caused by biallelic variants and characterized by blepharophimosis, arachnodactyly, congenital joint contractures, and a recognizable cra...
Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations [0.03%]
双眼角膜云翳的婴儿型范登·恩德-古尔塔综合征1例报告及眼科表型回顾分析
Faisal A AlTahan,Hala M Nassim Ali
Faisal A AlTahan
Purpose: Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive disorder caused by biallelic variants and characterized by blepharophimosis, arachnodactyly, congenital joint contractures, and a recognizable cra...
Identifying causal genetic markers and cellular mechanisms in diabetic retinopathy through single-cell sc-eQTL analysis and Mendelian randomization [0.03%]
通过单细胞sc-eQTL分析和孟德尔随机化识别糖尿病性视网膜病变的因果遗传标志物和细胞机制
Lizhi Cao,Zuming Wang,Xiaowei Cai et al.
Lizhi Cao et al.
Diabetic retinopathy (DR) requires robust biomarkers. To overcome the limitations of bulk sequencing, we integrated single-cell eQTL mapping with Mendelian randomization to identify causal cell populations and genes. CD8 Teff cells were exp...
Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy [0.03%]
UBAP1L基因的三种新型变异导致了全身性视网膜营养不良
Milda Reith,Katarina Stingl,Lasse Wolfram et al.
Milda Reith et al.
Purpose: In this study, we present three patients diagnosed with rod-cone and cone-rod dystrophy carrying likely biallelic variants in UBAP1L. Methods: ...
Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene [0.03%]
NRP3基因新变异引起的常染色体隐性视网膜病变(ARRP)
G Cammarata,A Mihalich,E Manfredini et al.
G Cammarata et al.
Aim: To report a case of autosomal recessive retinopathy (ARRP) associated with a novel homozygous deletion in NR2E3 gene. Methods: A f...
Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy [0.03%]
一个来自父系单亲二倍体的新型BBS5同合子变异患者的巴德-毕希综合征病例报告
Jinyu Liu,Tao Huang,Min Zhang et al.
Jinyu Liu et al.
Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder with multi-systemic symptoms, including polydactyly, obesity, renal anomalies, retinal dystrophy, and cognitive impairment. Our study...
Choroidal melanoma and polydactylous onychopapilloma leading to diagnosis of BAP1 tumor predisposition syndrome [0.03%]
BAP1肿瘤易感综合征的诊断性病例：脉络膜黑色素瘤和多指趾甲乳头状疣病変
Deanna Ingrassia Miano,Elisabeth Ferguson,Cameron Oswalt et al.
Deanna Ingrassia Miano et al.
Introduction: BAP1 tumor predisposition syndrome (BAP1-TPDS) is an autosomal dominant syndrome associated with uveal melanoma and multiple systemic malignancies, which is believed to be underreported. Recently, the presen...
Ora visual navigation course™ mobility test results in two individuals with CEP290 LCA after intravitreal injection of antisense oligonucleotide [0.03%]
针对CEP290基因突变所致Leber先天性黑蒙的视网膜下注射反义寡核苷酸后的两名患者的ORAV™导航系统评估结果
Caio Marques,Gabriela Doná Rodrigues,Ester Abigail da Silva Martins et al.
Caio Marques et al.
Purpose: This study aimed to report the longitudinal Ora Visual Navigation Course (Ora VNC™) mobility test results in two individuals, with CEP290 LCA following intravitreal injections of an antisense oligonucleotide, se...
William Temme,Eun-Jin Lee,Stephen H Tsang et al.
William Temme et al.
Background: Gene variants in the unfolded protein response regulator activating transcription factor 6 (ATF6) are linked to achromatopsia (ACHM), an autosomal recessive cone dystrophy that impairs color vision and visual ...