Results 51 to 60 of about 971 (147)

Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles

Molecular Therapy: Nucleic Acids, 2022
Stargardt disease (STGD) is the most common form of inherited retinal genetic disorders and is often caused by mutations in ABCA4. Gene therapy has the promise to effectively treat monogenic retinal disorders.
Da Sun, Wenyu Sun, Song-Qi Gao, Jonathan Lehrer, Amirreza Naderi, Cheng Wei, Sangjoon Lee, Andrew L. Schilb, Josef Scheidt, Ryan C. Hall, Elias I. Traboulsi, Krzysztof Palczewski, Zheng-Rong Lu   +12 more
doaj   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Recent Advancements in the Treatment of Age‐Related Macular Degeneration

Med Research, Volume 1, Issue 2, Page 151-169, September 2025.
ABSTRACT Age‐related macular degeneration (AMD) is a prevalent cause of visual impairment and blindness among the elderly. AMD can be categorized into two subtypes: “wet” and “dry.” Current treatments for wet AMD mainly involve anti‐vascular endothelial growth factor (VEGF) drugs, and there are three U.S.
Shan Liu, Danyang Lv, Junran Sun, Huixun Jia, Fang Zheng, Felipe Pereira, Siddharth Narendran, Zhenyu Dong, Haiyun Liu, Shunxiang Gao, Peirong Huang   +10 more
wiley   +1 more source

Fractal phototherapy in visual rehabilitation of patients with Stargardt disease

Российский офтальмологический журнал
Currently, there are no effective drug therapies for Stargardt disease (SD), although innovative strategies are being sought in several directions. Even minor improvements in individual visual characteristics are of great importance for improving the ...
V. I. Kotelin, M. V. Zueva, N. V. Neroeva, I. V. Zolnikova, M. V. Prokopev, D. Yu. Kolesnikov   +5 more
doaj   +1 more source

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

Journal of Ophthalmology, 2017
Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment ...
Edoardo Abed, Giorgio Placidi, Luigi Calandriello, Marco Piccardi, Francesca Campagna, Matteo Bertelli, Angelo Maria Minnella, Maria Cristina Savastano, Benedetto Falsini   +8 more
doaj   +1 more source

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Eye and Vision, 2020
Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and ...
Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan   +6 more
doaj   +1 more source

Associations Between Experience of Typical Variations in Stressors and Hippocampal Structure and Functional Connectivity in Childhood

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This study examined the associations between experience of typical variations in stressful life events and the development of hippocampal structure and functional connectivity. Our findings highlight the region‐ and age‐specific effects of stress on hippocampal development.
Morgan Botdorf, Zehua Cui, Tracy Riggins
wiley   +1 more source

Stargardt Disease: Insights on ATP-binding cassette subfamily A member 4-mediated Endo-Lysosomal Dysfunction in the Retinal Pigment Epithelium [PDF]

, 2023
Recessive Stargardt disease (STGD1) is an inherited macular degeneration that presents within the first two decades of life. Currently there are no suitable treatments for STGD1, resulting in progressive central vision loss in patients.
Ng, Eunice Sze Yin
core   +1 more source

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

Clinical Genetics, Volume 108, Issue 1, Page 14-21, July 2025.
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

Evaluation of Local Rod and Cone Function in Stargardt Disease

, 2022
PURPOSE. In this study, chromatic pupil campimetry (CPC) was used to map local functional degenerative changes of cones and rods in Stargardt disease (STGD1). METHODS.
Boon, Camiel
core   +1 more source