Results 21 to 30 of about 15,202 (200)

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

Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy

Case Reports in Ophthalmology, 2019
We report a case of bilateral serous retinal detachment in a patient with rod-cone dystrophy caused by mutation of BEST1. This followed creatine monohydrate use as a dietary supplement.
Konstantinos Kopsidas, Hedayat Javidi, Simon P. Kelly, Tariq Aslam, Graeme Black, Sajjad Mahmood   +5 more
doaj   +1 more source

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Abramowicz M., Ahmed F., Ahmed F., Al-Kubaisy W., Asrat Y., Ayyagari R., Baillie I., Bergen H. R., Berson E., Bloem M., Bordley J., Bret-Dibat C., Brink E., Burstedt M., Burstedt M., Capon M., Carr R., Carr R., Chisholm C., Christian P., Cunier F., de Pee S., DOG, Donnen P., Duke-Elder S., Fishman G., Fuchs A., Fuchs A., Gross-Jendroska M., Guy J., Haidar J., Hartmann E., Hayashi T., Hayashi T., Heckenlively J., Kalloniatis M., Kamei M., Kellner U., Kolling G., Lauber H., Lei B., Lorenz B., Main A., Marmor M., Marmor M., McBain V., Mele L., Milam A., Miyake Y., Miyake Y., Miyake Y., Mizuo A., Morimura H., Nabakwe E., Nettleship E., Oguchi C., Onder C., Parker W., Perlman I., Pesudovs K., Phelan J., Polans A., Polkinghorne P., Ramalho R., Reiner J., Resnikoff S., Ripps H., Rosen D., Rosen D., Rougier M., Ruiz-Martin M., Saunders C., Sawyer R., Schaumberg D., Schemann J., Schlote T., Schubert G., Sharp D., Shaw C., Skinner H., Smith R. A. J., Sommer A., Somner A., Sorsby A., Souied E., Spalton D., Stephenson S., Stockman A., Tabata Y., Takeuchi T., Taren D., Thirkill C., Tielsch J., Underwood B., Uyemura M., Weinstein J., Weiss J., Weiss N., Wolf G., Wolf G., Wolfe J. E.   +100 more
core   +1 more source

Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology, 2018
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
doaj   +1 more source

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options [PDF]

, 2016
Retinitis pigmentosa GTPase regulator (RPGR) gene sequence variants account for the vast majority of X linked retinitis pigmentosa (RP), which is one of the most severe forms of RP.
Hardcastle, AJ, Michaelides, M, Smith, AJ, Tee, JJ   +3 more
core   +1 more source

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

Acta Medica Iranica, 2020
Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients.
Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi   +3 more
doaj   +1 more source

The Epidemiology of Stargardt Disease in the United Kingdom [PDF]

, 2017
The authors thank the British Ophthalmological Surveillance Unit (BOSU) for the support received, as well as Mr Barnaby Foot, research coordinator for BOSU, for his help and advice on this project.
Bainbridge, James, Downes, Susan, Ho, Jason, Lois, Noemi, Scott, Neil W, Spiteri Cornish, Kurt   +5 more
core   +2 more sources

Assessing Photoreceptor Structure Associated with Ellipsoid Zone Disruptions Visualized with Optical Coherence Tomography [PDF]

, 2016
Purpose: To compare images of photoreceptor layer disruptions obtained with optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) in a variety of pathologic states.Methods: Five subjects with photoreceptor ellipsoid
Carroll, Joseph, Cooper, Robert F., Dubra, Alfredo, Flatter, John A., Han, Dennis P., Langlo, Christopher S., Neitz, Maureen, Pennesi, Mark E., Robison, Scott, Scoles, Drew, Weinberg, David V.   +10 more
core   +2 more sources

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source