Results 311 to 320 of about 271,210 (377)

High-altitude effect on corneal endothelial cells and prognosis in patients with cataract surgeries: a propensity score matched analysis. [PDF]

Int J Ophthalmol
Zhu LL, Zhu BX, Han Y, Tang YY, Wen YY, Zhang XH, Zhang LY, Zhu RL, Guo DY.   +8 more
europepmc   +1 more source

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, EarlyView.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici, Elif Sibel Aslan, Murat Karapapak, Savas Barıs, Recep Eroz   +7 more
wiley   +1 more source

Acute Corneal Epithelial Detachment During Lid Speculum Placement Prior to Intravitreal Injection in a Diabetic Patient: A Case Report. [PDF]

Clin Optom (Auckl)
Guo QQ, Zhao L, Zhu W.
europepmc   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, EarlyView.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Comparison of Vascular Density Changes After Cataract Surgery in Diabetic Patients with and Without Pseudoexfoliation Syndrome Using Optical Coherence Tomography Angiography. [PDF]

Biomedicines
Svjascenkova L, Zemitis A, Gredzens J, Laganovska G.   +3 more
europepmc   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts. [PDF]

BMC Ophthalmol
Zhu Y, Li N, Yao K, Wang W, Li J.
europepmc   +1 more source

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, EarlyView.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source

Rapid assessment of avoidable blindness in Yueqing, an economically developed area in eastern China. [PDF]

Int J Ophthalmol
Lu CJ, Zhou WH, Liang YB, Chen YZ, Song D, Tang YH, Gu J, Qu J.   +7 more
europepmc   +1 more source

Tetrahedral Framework Nucleic Acid‐Based Delivery of DJ‐1‐saRNA Prevent Retinal Ischaemia–Reperfusion Injury via Inhibiting Ferroptosis

Cell Proliferation, EarlyView.
Illustration of the preparation of tFNAs‐DJ‐1 saRNAs complex and its inhibitory effects on ferroptosis in R28 and retina. ABSTRACT Retinal ischaemia/reperfusion injury (RI/RI) is the primary pathophysiological mechanism underlying retinal ischaemic diseases, potentially resulting in significant and irreversible visual impairment.
Xianggui Zhang, Zhende Deng, Xiaoxiao Xu, Jingyi Zhu, Zhen Huang, Ya Ye, Jingying Liu, Delun Luo, Jinnan Liu, Ming Yan, Yanping Song   +10 more
wiley   +1 more source