Results 91 to 100 of about 62,782 (280)

Test–retest variability of the full‐field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4

Acta Ophthalmologica, Volume 104, Issue 1, Page 89-97, February 2026.
Abstract Purpose To evaluate test–retest variability (TRV) of the full‐field stimulus test (FST) in patients with retinitis pigmentosa (RP) and poor best‐corrected visual acuity (BCVA; ≤20/50 Snellen; ≥0.40 logMAR), and to assess the reliability of FST as a clinical endpoint in future RP trials.
J. S. Karuntu, S. B. A. E. Tulp, C. J. F. Boon   +2 more
wiley   +1 more source

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. [PDF]

, 2015
PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN:
Audo, I., Baudoin, C., Behar-Cohen, F., Bocquet, B., Béroud, C., Defoort-Dhellemmes, S., Devos, A., Dhaenens, C.M., Dollfus, H., Dufier, J.L., Faivre, L., Findlay, J.B., Guillaumie, T., Hamel, C.P., Kaplan, J., Le Meur, G., Manes, G., Marquette, V., Meunier, I., Odent, S., Picot, M.C., Puech, B., Sahel, J.A., Said, S.M., Sénéchal, A., Verdier, C., Vos, W.L., Weber, M., Zanlonghi, X., Zeitz, C.   +29 more
core   +1 more source

Syndromic retinitis pigmentosa

Progress in Retinal and Eye Research
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome.
Jessica S. Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, Astrid S. Plomp, Ronald J.A. Wanders, Carel B. Hoyng, Mary J. van Schooneveld, Nicoline E. Schalij-Delfos, Marion M. Brands, Bart P. Leroy, Clara D.M. van Karnebeek, Arthur A. Bergen, Maria M. van Genderen, Camiel J.F. Boon   +13 more
openaire   +3 more sources

Optochemical modulation of corneal cold nerve terminal impulse activity with a photochromic ion channel blocker

British Journal of Pharmacology, Volume 183, Issue 3, Page 545-559, February 2026.
Background and Purpose The functional organization of corneal cold nerve endings, critical structures in maintaining the ocular surface, remains poorly understood. Here, the photoisomerizable small‐molecule diethylamine‐azobenzene‐quaternary ammonium (DENAQ) was used to photomodulate activity of cold‐sensing nerve terminals in control and chronic tear ...
David Ares‐Suárez, Almudena Iñigo‐Portugués, Enrique Velasco, Susana Quirce, Fernando Aleixandre‐Carrera, Ariadna Díaz‐Tahoces, M. Carmen Acosta, Wan‐Chen Lin, Richard H. Kramer, Carlos Belmonte, Juana Gallar, Victor Meseguer   +11 more
wiley   +1 more source

Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa

Clinical Ophthalmology, 2014
Masako Kuroda,1 Yasuhiko Hirami,1–3 Masayuki Hata,4 Michiko Mandai,1–3 Masayo Takahashi,1–3 Yasuo Kurimoto1–3 1Department of Ophthalmology, Kobe City Medical Center General Hospital, 2Department of Ophthalmology, Institute of ...
Kuroda M, Hirami Y, Hata M, Mandai M, Takahashi M, Kurimoto Y   +5 more
doaj  

Photobiomodulation therapy as a new hope therapy for retinitis pigmentosa: a systematic review

Revista Brasileira de Oftalmologia
Retinitis pigmentosa is one of the leading causes of hereditary blindness in developed countries and unfortunately there is currently no cure. Photobiomodulation therapy can penetrate the retina and optic nerve and restore the function of damaged ...
Ivana Beatrice Alberta, Yufilia Suci Amelia, Airina Stefanie   +2 more
doaj   +1 more source

CRISPR/SaCas9-based gene editing rescues photoreceptor degeneration throughout a rhodopsin-associated autosomal dominant retinitis pigmentosa mouse model [PDF]

, 2023
Wei Du, Jiarui Li, Xin Tang, Wenzhen Yu, Mingwei Zhao   +4 more
openalex   +1 more source

Gezielte Modulation des spliceosomalen Proteins USP39 durch allosterische Liganden und PROTAC‐induzierte Degradation

Angewandte Chemie, Volume 138, Issue 5, 28 January 2026.
Proteolysis‐targeting Chimeras (PROTACs) ermöglichen die gezielte Degradation bislang als „undruggable“ geltende Proteine über das zelluläre Ubiquitin–Proteasom‐System. In dieser Studie identifizieren Schäfer et al. thiazolbasierte niedermolekulare Liganden, die allosterisch an die Zinkfinger‐Domäne der Ubiquitin‐spezifischen Protease 39 (USP39) binden
Daniel Schäfer, Cristian Prieto‐Garcia, Jianhui Wang, Marcel Heinz, Vigor Matkovic, Pavel Kielkowski, Sebastian Hasselbeck, Varun Jayeshkumar Shah, Stefan Knapp, Gerhard Hummer, Ivan Dikic, Xinlai Cheng   +11 more
wiley   +1 more source

Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa [PDF]

, 2023
Chen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, Alexey Obolensky, Avigail Beryozkin, Manar Salameh, Corinne Kostic, Dror Sharon, Yvan Arsenijévic, Eyal Banin   +9 more
openalex   +1 more source

Targeting the Spliceosomal Protein USP39 Through Allosteric Ligands and PROTAC‐Induced Degradation

Angewandte Chemie International Edition, Volume 65, Issue 5, 28 January 2026.
Proteolysis‐targeting chimeras (PROTACs) enable degradation of proteins previously considered undruggable by harnessing the cellular ubiquitin–proteasome system. In this study, Schäfer et al. identify thiazole‐based small molecules that allosterically bind the zinc finger domain of ubiquitin‐specific protease 39 (USP39), a non‐enzymatic scaffold ...
Daniel Schäfer, Cristian Prieto‐Garcia, Jianhui Wang, Marcel Heinz, Vigor Matkovic, Pavel Kielkowski, Sebastian Hasselbeck, Varun Jayeshkumar Shah, Stefan Knapp, Gerhard Hummer, Ivan Dikic, Xinlai Cheng   +11 more
wiley   +1 more source