Results 71 to 80 of about 87,753 (269)

Quantitative evaluation of primary retinitis pigmentosa patients using colour Doppler flow imaging and optical coherence tomography angiography

Acta ophthalmologica, 2019
To find the potential relation between changes in retinal large vessels and terminal vessels using colour Doppler flow imaging (CDFI) and optical coherence tomography angiography (OCTA) and to compare the respective advantages of CDFI and OCTA in ...
Xiao-Na Wang, Qi Zhao, Dong-jun Li, Zi-yang Wang, Wei Chen, Yifeng Li, R. Cui, Lin Shen, Ruikang K. Wang, Xiaoyan Peng, Wen-li Yang   +10 more
semanticscholar   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

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

Visual Cortical Plasticity in Retinitis Pigmentosa

Investigative Ophthalmology and Visual Science, 2019
Purpose Retinitis pigmentosa is a family of genetic diseases inducing progressive photoreceptor degeneration. There is no cure for retinitis pigmentosa, but prospective therapeutic strategies are aimed at restoring or substituting retinal input.
C. Lunghi, L. Galli‐Resta, Paola Binda, G. Cicchini, G. Placidi, B. Falsini, M. Morrone   +6 more
semanticscholar   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Vascular dysfunction in retinitis pigmentosa

Acta ophthalmologica, 2019
The relationship between ocular haemodynamics and retinitis pigmentosa (RP) has not been fully understood. Reductions in blood flow have been established in RP patients by a variety of studies; however, questions have yet to be answered regarding the ...
Matt Lang, A. Harris, T. Ciulla, B. Siesky, Pooja Patel, Aditya V. Belamkar, S. Mathew, A. Verticchio Vercellin   +7 more
semanticscholar   +1 more source

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, EarlyView.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration. [PDF]

, 2019
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from ...
Bensinger, Ethan, Duncan, Jacque L, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Rinella, Nicholas, Roorda, Austin, Saud, Asma   +9 more
core  

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa

British Journal of Ophthalmology, 2018
Background/Aims To report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in patients with retinitis pigmentosa (RP).
G. Liew, S. Strong, Patrick D. Bradley, P. Severn, A. Moore, A. Webster, P. Mitchell, A. Kifley, M. Michaelides   +8 more
semanticscholar   +1 more source

Frequency responses of human magnetophosphene perception thresholds during dark adaptation point to rod modulation

Experimental Physiology, EarlyView.
Abstract Magnetophosphenes are flickering lights perceived when an extremely low frequency magnetic field generates a sufficiently strong electric field in the head. Understanding how phosphenes are produced is crucial, as they form the basis for international safety standards and guidelines for both workers and the general population.
Nicolas Bouisset, Andres Carvallo, Sebastien Villard, Ilkka Laakso, Alexandre Legros   +4 more
wiley   +1 more source