Results 91 to 100 of about 417,668 (180)

Analysis of Molecular Genetic Testing Referrals for Inherited Retinal Dystrophies in a Quebec Tertiary Care Center Over a Decade

Clinical Ophthalmology, 2022
Alexandre Lachance,1,2 Mélanie Hébert,1,2 Marc Hébert,1– 3 Christian Salesse,1,2 Serge Bourgault,1,2 Ali Dirani1,2 1Faculté de médecine, Université Laval, Québec, QC, Canada; 2Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico ...
Lachance A, Hébert M, Hébert M, Salesse C, Bourgault S, Dirani A   +5 more
doaj  

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

Molecular Therapy: Nucleic Acids, 2018
Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy associated with mutations in CEP290. The deep intronic c.2991+1655A>G mutation in CEP290 is the most common mutation in LCA10 individuals and represents an ideal target ...
Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A. Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma’ayan Semo, Anthony A. Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham   +18 more
doaj   +1 more source

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

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

Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein, Ines Heinreich, Florian Willmitzer, Marion Mucha   +3 more
wiley   +1 more source

A case of cone dystrophy associated with choroidal neovascularization

, 2018
PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report.RESULTS: A 20-year-old woman presented with diminished vision in her right eye.
Odabaşı, Mahmut, Sevil Karaman Erdur, Gokhan Gulkilik, Eliaçık, Mustafa, Mahmut Odabasi, Demirci, Göktu?, Mustafa Ozsutcu, Gülkılık, İbrahim Gökhan, Mehmet Selim Kocabora, Karaman Erdur, Sevil, Kocabora, Mehmet Selim, Goktug Demirci, Mustafa Eliacik, Özsütçü, Mustafa   +13 more
core   +1 more source

A Rare Case of Best Vitelliform Macular Dystrophy

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Best vitelliform macular dystrophy (BVMD) is an autosomal dominant bestrophinopathy caused by mutations in the BEST1 gene, characteristically affecting the retinal pigment epithelium and producing a distinctive egg-yolk macular appearance. We report a 54-
Rishit Anand, Keerthan Rao
doaj   +1 more source

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB‐Related Genes: An Impossible Challenge?

Clinical Genetics, Volume 110, Issue 5, Page 639-641, November 2026.
As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.
Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin   +3 more
wiley   +1 more source

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial

Nature Communications
Gene therapy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders characterized by severe loss of vision. Here, we report up to 3-year pre-specified interim safety and efficacy results of an open-label first-in ...
Anders Kvanta, Nalini Rangaswamy, Karen Holopigian, Christine Watters, Nicki Jennings, Melissa S. H. Liew, Chad Bigelow, Cynthia Grosskreutz, Marie Burstedt, Abinaya Venkataraman, Sofie Westman, Asbjörg Geirsdottir, Kalliopi Stasi, Helder André   +13 more
doaj   +1 more source

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, Volume 49, Issue 11, November 2026.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source