Results 41 to 50 of about 5,980 (178)

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Additional file 3 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

, 2022
Additional file 3: Phenotypic and mutational spectrum of 143 North African families with syndromic inherited retinal ...
Ghita Amalou (12538812), Aymane Bouzidi (12538809), Hicham Charoute (3208407), Majida Charif (326461), Mostafa Kandil (3208404), Guy Lenaers (10199487), Abdelhamid Barakat (326464)   +6 more
core   +1 more source

Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? [PDF]

, 2017
Purpose It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ...
Pierrache, Laurence, Stanley Lambertus, Mies M. van Genderen, Arthur A. Bergen, Wendy A. van Zelst-Stams, F. Nienke Boonstra, Magda Meester-Smoor, Ingeborgh van den Born, L., Virginie J.M. Verhoeven, van Leeuwen, Redmer, Maarten Kamermans, Nathalie M. Bax, Bergen, Arthur A., José Schuil, Clasien J. Oomen, Klevering, B Jeroen, Redmer van Leeuwen, Meester-Smoor, Magda, Oomen, Clasien J, van Schooneveld, Mary J., Mary J. van Schooneveld, Camiel J. Boon, Michelle Hendriks, Boon, Camiel J.F., Laurence Pierrache, Meester-Smoor, Magda A., Boonstra, F Nienke, RD5000 Consortium, Hester Y Kroes, van Genderen, Mies M., Jan Roelof Polling, Caroline C.W. Klaver, B. Jeroen Klevering, van Huet, Ramon A C, Gabriëlle H.S. Buitendijk, Polling, Jan Roelof, Cremers, Frans Pm, Hofman, Albert, Albert Hofman, Klaver, Caroline C W, van Zelst-Stams, Wendy A. G., Ramon A. van Huet, Schuil, José, Magda A. Meester-Smoor, Astrid S. Plomp, L. Ingeborgh van den Born, Verhoeven, Virginie J M, Plomp, Astrid S, Yvonne de Jong-Hesse, Carel B. Hoyng, van den Born, L Ingeborgh, Jan W.R. Pott, Kamermans, Maarten, Buitendijk, Gabriëlle H.S., Bax, Nathalie M., Lambertus, Stanley, Kroes, Hester Y., Pott, Jan W.R., Frans P. Cremers, Reinier O. Schlingemann, Schlingemann, Reinier O, Hoyng, Carel B., Hendriks, Michelle, de Jong-Hesse, Yvonne   +63 more
core   +3 more sources

Unveiling Visual Acuity in 58,712 Four-Year-Olds: Standardized Assessment Defined Normative Visual Acuity Threshold

Vision
The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Registry
Mirjana Bjeloš, Mladen Bušić, Benedict Rak, Ana Ćurić, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source

Dog Models for Blinding Inherited Retinal Dystrophies [PDF]

Human Gene Therapy Clinical Development, 2015
Spontaneous canine models exist for several inherited retinal dystrophies. This review will summarize the models and indicate where they have been used in translational gene therapy trials. The RPE65 gene therapy trials to treat childhood blindness are a good example of how studies in dogs have contributed to therapy development.
Simon M, Petersen-Jones, András M, Komáromy   +1 more
openaire   +2 more sources

Gene therapy for inherited retinal dystrophies.

, 2023
Inherited retinal dystrophies are a group of relatively rare genetic disorders that cause progressive degeneration of the retina, leading to vision loss, which causes lots of difficulties and challenges to patients in everyday life.
Kobeckis, Kamilis,
core  

Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism

Diagnostics
We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p.
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source

Inherited retinal dystrophy and asymmetric axial length [PDF]

British Journal of Ophthalmology, 2003
The prenatal and postnatal development of the eye is determined by complex interactions between a number of genes, their products, and certain environmental factors.1,2 Since each eye is influenced by precisely the same processes as its fellow, mutations in regulatory genes usually lead to symmetric phenotypes.
P, Francis, A G, Robson, G, Holder, A, Moore, P, Francis, A, Moore, S, Kaushal   +6 more
openaire   +2 more sources

Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa

International Journal of Retina and Vitreous, 2019
Degenerative retinal disease leads to significant visual morbidity worldwide. Diabetic retinopathy and macular degeneration are leading causes of blindness in the developed world.
Parker E. Ludwig, S. Caleb Freeman, Adam C. Janot   +2 more
doaj   +1 more source

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

Scientific Reports, 2022
Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness.
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García   +6 more
doaj   +1 more source