Results 101 to 110 of about 370,744 (189)

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

Efficacy of topical brinzolamide in children with retinal dystrophies

, 2019
Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies ...
Pfeifer, Wanda, Chen, Constance V, Scruggs, Brittni A, Wiley, Jill S, Wang, Kai, Drack, Arlene V   +5 more
core   +2 more sources

Expanding horizons of intravitreal anti-vascular endothelial growth factor therapy in retinal diseases

Indian Journal of Ophthalmology
Vascular endothelial growth factor (VEGF) plays a central role in the pathogenesis of retinal and choroidal neovascularization, as well as macular edema (ME), in retinal disorders such as diabetic retinopathy, retinal vein occlusion (RVO), and age ...
Shalini Singh, Urvashi Kala, Arjun Bamel, Manisha Agarwal   +3 more
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

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

Neural Plasticity, 2018
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in the developing world. These conditions present an irreversible dysfunction or loss of neural retinal cells, which significantly impacts quality of life.
Carla Sanjurjo-Soriano, Vasiliki Kalatzis   +1 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

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2279-2288, October 2026.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Rod-cone dystrophy with myriad systemic manifestations

Oman Journal of Ophthalmology
Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism ...
Goudappa Patil, Premika Pandarasamy, N. V. S. Krishna Reddy, Pratyusha Ganne   +3 more
doaj   +1 more source

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

, 2020
Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide.
Ana Rodríguez-Muñoz, José M. Millán, Carla Fuster-García, Belén García-Bohórquez, Gema García-García   +4 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source