Results 31 to 40 of about 4,861,001 (122)

Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task [PDF]

, 1993
We measured frequency-of-seeing curves for tiny (1.125 and 3.375 min arc) stimuli flashed briefly at absolute threshold to estimate the density of foveal cones in normals and in subjects with Stargardt's macular dystrophy.
Geller, Andrew M., Sieving, Paul A.
core   +1 more source

Implementation of experimental cellular (cellular-genetic) therapies on the example of eye diseases

Journal of Education, Health and Sport, 2020
The development of technology and a modern research approach in the 21st century has enabled access to new therapies in many fields of medicine and nanotechnology.
Patrycja Kapczuk, Karolina Rogulska, Anna Stangret, Agata Mularczyk, Angelika Szczęśniak, Katarzyna Topczewska, Konrad Grzeszczak   +6 more
doaj   +1 more source

Nonparametric Regression for Cost‐Effectiveness Analyses With Observational Data—A Tutorial

Health Economics, EarlyView.
ABSTRACT Healthcare decision‐making often requires selecting among multiple treatment options under budget constraints, particularly when one option is more effective but also more costly. Cost‐effectiveness analysis (CEA) provides a framework for evaluating whether the health benefits of a treatment justify its additional costs.
Jonas Esser, Mateus Maia, Judith E. Bosmans, Johanna Maria van Dongen   +3 more
wiley   +1 more source

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) [PDF]

, 1997
Rim protein (RmP) is a high-Mr membrane glycoprotein that has been localized to the rims of photoreceptor outer segment discs, but its molecular identity is unknown. Here, we describe the purification of RmP and present the sequence of its mRNA. RmP is a
Travis, Gabriel H., Gabriel H. Travis, Sassan M. Azarian, Azarian, Sassan M.   +3 more
core   +1 more source

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

Frontiers in Genetics, 2017
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy.Methods: In the current study, we comprehensively screened 130 genes involved in common ...
Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Sheng-Hai Zhang, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ji-Hong Wu, Ji-Hong Wu, Ge-Zhi Xu, Ge-Zhi Xu, Ge-Zhi Xu   +16 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

The optical coherence tomography and microperimetry biomarker evaluation in patients with geographic atrophy (OMEGA) study: Geographic atrophy progression in fundus autofluorescence ‐ OMEGA report 3

Acta Ophthalmologica, EarlyView.
Abstract Purpose To measure the progression of geographic atrophy (GA) in subjects with age‐related macular degeneration (AMD) in a natural history study. Methods We analysed fundus autofluorescence (FAF) images using a semiautomatic method (RegionFinder) to quantify the GA area in a monocentric study.
Philippe Valmaggia, Georg Ansari, Nadja Inglin, Nils Schärer, Hanna Zuche, Chrysoula Gabrani, Faady Yahya, Marco Cattaneo, Kristina Pfau, Andrea Giani, Marieh Esmaeelpour, Taffeta Chingning Yamaguchi, Christian Prünte, Hendrik P. N. Scholl, Nicolas Feltgen, Leopold Schmetterer, Maximilian Pfau, Peter M. Maloca   +17 more
wiley   +1 more source

The impacts of high refractive errors on self‐reported visual function and visual concern

Acta Ophthalmologica, EarlyView.
Abstract Purpose To examine the association between refractive errors and self‐reported visual function and visual concern, considering self‐perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye‐healthy cohort.
Jens Riis Møller, Arevak Saruhanian, Jens Rovelt, Josefine Freiberg, Marcel Reimann, Jeppe Nygård Samuelsen, Christina Eckmann‐Hansen, Miriam Kolko, Nina Jacobsen, FOREVER Consortium   +9 more
wiley   +1 more source

Electrophysiological Features of Stargardt's Disease and the İnvestigation of Progression in A Case Using Optical Coherence Tomography, Electroretinography and Electrooculography [PDF]

, 2015
Bu çalışmada Stargardt hastalığının özelliklerinin ve progresyonunun incelenmesi amaçlanmıştır. Gereç ve Yöntem: Fundus flavimakülatuslu (FFM) 18 olgu ve fundus flavimakülatusla beraber Stargardt hastalığı (FFMSTGD) olan 5 olgunun elektrofizyolojik ...
Oltulu, Refik, Şatırtav Akdeniz, Günhal, Gündüz, Mehmet Kemal, Hürkan, Kerimoğlu   +3 more
core   +2 more sources

Effective delivery of large genes to the retina by dual AAV vectors

EMBO Molecular Medicine, 2013
Retinal gene therapy with adeno‐associated viral (AAV) vectors is safe and effective in humans. However, AAV's limited cargo capacity prevents its application to therapies of inherited retinal diseases due to mutations of genes over 5 kb, like Stargardt ...
Ivana Trapani, Pasqualina Colella, Andrea Sommella, Carolina Iodice, Giulia Cesi, Sonia de Simone, Elena Marrocco, Settimio Rossi, Massimo Giunti, Arpad Palfi, Gwyneth J Farrar, Roman Polishchuk, Alberto Auricchio   +12 more
doaj   +1 more source