Results 81 to 90 of about 12,927 (274)
Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Janan Niknam +4 more
wiley +1 more source
Science Advances, 2019 Therapeutic genome editing of a nonsense mutation showed functional gain in a mouse model of inherited retinal degeneration. Leber congenital amaurosis (LCA), one of the leading causes of childhood-onset blindness, is caused by autosomal recessive ...
D. Jo +12 more
semanticscholar +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
core +1 more source
Toward Precision Medicine: Gene Therapy Applications in the Management of Uveal Melanoma
Cancer Reports, Volume 8, Issue 12, December 2025.ABSTRACT Background Uveal melanoma (UM) is the prevailing malignant tumor that develops within the eye in adults, and it has a bleak outlook because of the few treatment choices available and the high likelihood of returning after treatment. Currently, surgical intervention, radiation therapy, and a combination of both modalities are available ...
Alireza Azani +13 more
wiley +1 more source
Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model. [PDF]
, 2015 PurposeA spontaneous frameshift mutation, c.3481delC, in the Crb1 gene is the underlying cause of dysplasia and retinal degeneration in rd8 mice. The rd8 mutation is found in C57BL/6N but not in C57BL/6J mouse sub-strains.
Alapati, Akhila +6 more
core +5 more sources
Journal of the Royal Society of New Zealand, Volume 55, Issue 6, Page 2440-2463, December 2025.ABSTRACT Gene editing therapies are designed to minimise off‐target editing. However, it is not widespread practice for common polymorphisms to be considered when identifying potential off‐target sites in silico. Nevertheless, genetic variants should be included as they have the potential to alter existing, or to generate new, off‐target sites.
Christopher Samson +5 more
wiley +1 more source
Medical Review, 2022 Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations.
Huang Chao, Li Qing, Li Jinsong
doaj +1 more source
Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Investigative Ophthalmology and Visual Science, 2019 Leber congenital amaurosis (LCA) is a group of monogenic inherited retinal degenerations that typically show early onset and severe visual dysfunction. In addition, there is a natural history of progressive loss of photoreceptors and associated further ...
A. Cideciyan, S. Jacobson
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala +8 more
wiley +1 more source
Molecular Vision, 2019 Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was ...
Zilin Zhong +9 more
doaj