Results 141 to 150 of about 19,769 (229)

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]

, 2017
Bedford, Bender, Busse, Downs, Falconer, Gelatt, Gresky, Henderson, Mellersh, Mellersh, Mellersh, Mellersh, Mellersh, Miyadera, Miyadera, Muller, Muller, Muller, Muller, Müller, Palanova, Roberts, Ropstad, Ropstad, Stades, Turney, Wiik, Wiik, Zigler, Zigler   +29 more
core   +2 more sources

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology

American Journal of Ophthalmology Case Reports
Purpose: ADAMTS18-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy.
Ari H. August, Rebecca A. Procopio, Christopher J. Rapuano, José S. Pulido   +3 more
doaj   +1 more source

Notch Inhibition Promotes Regeneration and Immunosuppression Supports Cone Survival in a Zebrafish Model of Inherited Retinal Dystrophy. [PDF]

J Neurosci, 2022
Fogerty J, Song P, Boyd P, Grabinski SE, Hoang T, Reich A, Cianciolo LT, Blackshaw S, Mumm JS, Hyde DR, Perkins BD.   +10 more
europepmc   +1 more source

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy. [PDF]

J Clin Med, 2021
Shi J, Xu K, Hu JP, Xie Y, Zhang X, Zhang XH, Jin ZB, Li Y.   +7 more
europepmc   +1 more source

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Human Genomics
Background Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic ...
Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M. Millán, Gema García-García   +8 more
doaj   +1 more source

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort. [PDF]

Front Cell Dev Biol, 2021
Xu K, Chen DF, Chang H, Shen RJ, Gao H, Wang XF, Feng ZK, Zhang X, Xie Y, Li Y, Jin ZB.   +10 more
europepmc   +1 more source

Artificial intelligence applications in inherited retinal dystrophies

Graefe's Archive for Clinical and Experimental Ophthalmology
Abstract Purpose Inherited retinal dystrophies (IRDs) are a heterogeneous group of diseases characterized by genotypic and phenotypic variability and are among the leading causes of blindness in the working-age population in developed countries.
Peter Kiraly, M. Dominik Fischer
openaire   +1 more source

Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy

Journal of Clinical Ophthalmology and Research
Focal choroidal excavation (FCE) refers to one or more areas of localized choroidal excavation seen on spectral-domain optical coherence tomography, in the absence of a posterior staphyloma or scleral ectasia.
Neha Goel
doaj   +1 more source

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. [PDF]

Int J Mol Sci, 2021
de Bruijn SE, Fadaie Z, Cremers FPM, Kremer H, Roosing S.   +4 more
europepmc   +1 more source

Wavelength of light and photophobia in inherited retinal dystrophy. [PDF]

Sci Rep, 2020
Otsuka Y, Oishi A, Miyata M, Oishi M, Hasegawa T, Numa S, Ikeda HO, Tsujikawa A.   +7 more
europepmc   +1 more source