Results 131 to 140 of about 9,124 (223)

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

Histoire d'une famille de deux générations atteinte par la forme dominante de la maladie de Stargardt, due à une mutation sur le gène ELOVL4 : Case report [PDF]

, 2015
Un patient de 22 ans et les membres de sa famille se soumettent à un examen ophtalmique complet, comprenant un examen du fond d'oeil, une autofluorescence, une tomographie à cohérence optique (OCT), un champ visuel et un électrorétinogramme (ERG).
MORET, E.
core  

State-of-the-art gene therapy for inherited retinal disorders

Клиническая офтальмология
O.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj  

The importance of electrophysiological and imaging methods in the diagnostics of inherited retinal degenerations: Genotype-phenotype correlations [PDF]

, 2015
Zobor, Annamária Ditta
core   +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

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel? [PDF]

Front Cell Dev Biol, 2023
Perkins BD, Lobo GP, Kondkar AA, Millan JM.   +3 more
europepmc   +1 more source

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

JCI Insight
Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent   +22 more
doaj   +1 more source

Nanocarrier-based CircRNA therapeutics in inherited retinal dystrophies. [PDF]

Ann Med Surg (Lond)
Habib E, Hajj F.
europepmc   +1 more source

Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation. [PDF]

Transl Vis Sci Technol
Wolfram L, Merle DA, Kühlewein L, Kempf M, Stingl K, Kohl S, Stingl K.   +6 more
europepmc   +1 more source

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study. [PDF]

PLoS One
Vandersmissen I, Geers J, Denee T, Oinasmaa S, Hoeben D, Zhang X, Aydin B, Cheung S, Billiet L, Joniau I, Daly A, Simoens S, Leroy BP.   +12 more
europepmc   +1 more source