Results 61 to 70 of about 9,112 (206)

Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases

Frontiers in Cell and Developmental Biology, 2018
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist.
Christine L. Xu, Christine L. Xu, Galaxy Y. Cho, Galaxy Y. Cho, Galaxy Y. Cho, Jesse D. Sengillo, Jesse D. Sengillo, Jesse D. Sengillo, Karen S. Park, Karen S. Park, Vinit B. Mahajan, Vinit B. Mahajan, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang   +15 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Stargardt Disease. Literature review

Oftalʹmologiâ
This literature review is devoted to the most common hereditary disease of the retina, called Stargardt disease. The work provides information on the epidemiology, molecular genetics, and pathophysiology of this disease.
R. S. Zhazybaev, A. L. Zhirov
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

A Novel Time-Aware Deep Learning Model Predicting Myopia in Children and Adolescents

Ophthalmology Science
Objective: To quantitatively predict children’s and adolescents’ spherical equivalent (SE) by leveraging their variable-length historical vision records. Design: Retrospective analysis.
Ana Maria Varošanec, MD, Leon Marković, MD, Zdenko Sonicki, MD, PhD   +2 more
doaj   +1 more source

Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa

International Journal of Retina and Vitreous, 2019
Degenerative retinal disease leads to significant visual morbidity worldwide. Diabetic retinopathy and macular degeneration are leading causes of blindness in the developed world.
Parker E. Ludwig, S. Caleb Freeman, Adam C. Janot   +2 more
doaj   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

American Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Duane retraction syndrome type 1 with nonsyndromic retinitis pigmentosa – A rare atypical association

Indian Journal of Ophthalmology. Case Reports
Duane Retraction Syndrome (DRS) is a rare congenital disorder of ocular motility typically characterized by a triad of variable duction limitation, globe retraction, and palpebral fissure narrowing on adduction.
Akila Chandrasekaran, Ankita Bisani, Saranya Settu, Janani Muralikrishnan   +3 more
doaj   +1 more source