Results 101 to 110 of about 19,769 (229)

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options [PDF]

, 2016
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the
Fujinami, K, Michaelides, M, Strauss, RW, Tanna, P   +3 more
core   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +3 more sources

Novel Therapies for Inherited Retinal Dystrophies

Journal of Clinical Medicine
With the approval of the first retinal gene therapy, voretigene neparvovec [...]
openaire   +2 more sources

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

Small molecules targeting glycogen synthase kinase 3 as potential drug candidates for the treatment of retinitis pigmentosa

Journal of Enzyme Inhibition and Medicinal Chemistry, 2017
Retinitis pigmentosa (RP) is an inherited retinal dystrophy that courses with progressive degeneration of retinal tissue and loss of vision. Currently, RP is an unpreventable, incurable condition.
Miguel Marchena, Beatriz Villarejo-Zori, Josefa Zaldivar-Diez, Valle Palomo, Carmen Gil, Catalina Hernández-Sánchez, Ana Martínez, Enrique J. de la Rosa   +7 more
doaj   +1 more source

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American [PDF]

, 2018
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy.
Dougherty, Sean C., Haines, Scott R., Harper, Amy, Saif, Hind Al, Vorona, Gregory   +4 more
core   +2 more sources

Reconstruction of deep and perforating corneal defects in dogs—A review (Part II/III): Biomaterials and keratoprosthesis

Veterinary Ophthalmology, Volume 28, Issue 2, Page 532-542, March 2025.
Abstract The surgical reconstruction of severe corneal ulcers is a common and crucial component of the clinical practice of veterinary ophthalmology. Numerous surgical techniques are used in dogs for corneal reconstruction, and these techniques may be categorized by the material used to repair the corneal lesion.
Eric C. Ledbetter, Rick F. Sanchez, Marta Leiva Repiso   +2 more
wiley   +1 more source

Low‐Cost and Detunable Wireless Resonator Glasses for Enhanced Eye MRI With Concurrent High‐Quality Whole‐Brain MRI

Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 499-507, July 2026.
ABSTRACT Purpose To develop a wearable wireless resonator glasses design that enhances eye MRI signal‐to‐noise ratio (SNR) without compromising whole‐brain image quality at 7 T. Methods The device integrates two detunable LC loop resonators into a lightweight, 3D‐printed frame positioned near the eyes.
Ming Lu, Xiaoyue Yang, Jason E. Moore, Pingping Li, Adam W. Anderson, John C. Gore, Seth A. Smith, Xinqiang Yan   +7 more
wiley   +1 more source

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. [PDF]

, 2015
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries.
Ansar, M., Bibi, R., Iqbal, J., Jarral, A., Nikopoulos, K., Nishiguchi, K.M., Rivolta, C., Sajid, S., Saqib, M.A., Sher Khan, F., Ullah, E., Venturini, G.   +11 more
core   +2 more sources

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source