Results 51 to 60 of about 10,452 (214)

Cone dystrophy with supernormal rod response – A rare case report

Indian Journal of Ophthalmology. Case Reports
Cone dystrophy with supernormal rod response (CDSRR), also known as potassium channel subfamily V, member 2 (KCNV2) retinopathy, is a rare autosomal recessive cone rod dystrophy, which derives its name from its characteristic full-field ...
Elizabeth Mathew, Aditya Maitray, Maanasi Mahalingam, Anand Rajendran   +3 more
doaj   +1 more source

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

Journal of Fish Diseases, EarlyView.
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

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy [PDF]

, 2021
Purpose: Rod–cone dystrophy (RCD) is characterized by centripetal loss of rod followed by cone photoreceptors. In this prospective, observational cohort, we used flood-illumination adaptive optics (AO) imaging to investigate parafoveal cone loss in ...
SAMPSON, DANUTA, Charng, Jason, Heath Jeffery, Rachael C, McLenachan, Samuel, Roshandel, Danial, Chen, Fred K., Mackey, David   +6 more
core   +1 more source

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

npj Genomic Medicine
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ...
Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi   +48 more
doaj   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

, 2010
International audienceBackground: Cone-rod dystrophy is a retinal dystrophy with early loss of cone receptors and a parallel or subsequent loss of rod receptors. It may be syndromic, but most forms are non-syndromic and inherited in an autosomal dominant,
Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Ostergaard, Elsebet   +3 more
core   +1 more source

Common Ophthalmic Conditions in Popular Dog Breeds in Japan: Insights From a Survey of 105 Veterinarians Practicing Ophthalmology

Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.
ABSTRACT Objective To identify commonly presented dog breeds and potentially heritable ophthalmic diseases encountered by veterinarians practicing ophthalmology in Japan. Methods A survey was distributed through the Japanese Society of Comparative and Veterinary Ophthalmology.
Victoria Caballero, Arisu Kobayashi, Yasuyoshi Umeda, Susumu Hirashima, Yuichiro Muramatsu, Mitsuharu Ota, Makoto Yamashita, Yukako Kobayashi, Keiko Miyadera   +8 more
wiley   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

, 2014
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone ...
Kim, Chong A., Baratela, Wagner A.R., Lazar, Monize, Afonso, Clara L., Suzuki, Lisa, Oliveira, Luiz A.N., Bertola, Débora R., Yamamoto, Guilherme L., Almeida, Tatiana F., Oyamada, Maria K., Ramos, Ester S., Passos-Bueno, Maria Rita   +11 more
core   +1 more source