Results 41 to 50 of about 9,124 (223)

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. [PDF]

, 2015
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries.
Ansar, M., Bibi, R., Iqbal, J., Jarral, A., Nikopoulos, K., Nishiguchi, K.M., Rivolta, C., Sajid, S., Saqib, M.A., Sher Khan, F., Ullah, E., Venturini, G.   +11 more
core   +2 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

The Special Electrophysiological Signs of Inherited Retinal Dystrophies [PDF]

The Open Ophthalmology Journal, 2012
The study aim was to analyze the electrophysiological signs of inherited retinal dystrophies (IRD). Full-field and multifocal (mf) electroretinography (ERG) was analysed in three groups: 21 normal subjects, 21 randomly selected IRD patients, and 21 patients randomly selected from each of eleven IRD groups.
Prokofyeva, Elena, Tröger, Eric, Zrenner, Eberhart   +2 more
openaire   +3 more sources

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

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

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

CRB1 mutation spectrum in inherited retinal dystrophies

Human Mutation, 2004
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA).
Hollander, A.I. den, Davis, J., Velde-Visser, S.D. van der, Zonneveld-Vrieling, M.N., Pierrottet, C.O., Koenekoop, R.K., Kellner, U., Born, L.I. van den, Heckenlively, J.R., Hoyng, C.B., Handford, P.A., Roepman, R., Cremers, F.P.M.   +12 more
openaire   +3 more sources

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

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service [PDF]

, 2016
In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS)
Ali, N, Chana, R, Khan, KN, Michaelides, M, Moore, AT, Webster, AR, Wright, G   +6 more
core   +1 more source