Results 71 to 80 of about 9,513 (213)

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

Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient

Pediatric Transplantation, Volume 30, Issue 3, March 2026.
ABSTRACT Background Urothelial bladder carcinoma is extremely rare in children and its association with BK virus infection remains unclear. Methods We describe the case of an 11‐year‐old girl who developed a urothelial carcinoma of the bladder four years after receiving her first kidney transplant.
Martina Ichas, Lise Allard, Luke Harper, Mokrane Yacoub, Iona Madden, Cécile Vérité, Astrid Godron‐Dubrasquet, Jérôme Harambat   +7 more
wiley   +1 more source

Gene therapy in ophthalmology

Oman Journal of Ophthalmology, 2009
It has been more than a year since ophthalmologists and scientists under Dr. Robin Ali′s team at the Moorsfield Eye Hospital and the Institute of Ophthalmology, University College London, successfully treated patients with a severely blinding disease ...
Satagopan Uthra, Govindasamy Kumaramanickavel   +1 more
doaj   +1 more source

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

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups [PDF]

, 2016
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but ...
Carr, A-JF, Cheetham, ME, Coffey, PJ, da Cruz, L, Gallo, J-M, Hardcastle, AJ, Hull, S, Jovanovic, K, Kanuga, N, Lane, A, Moore, AT, Munro, PM, Muthiah, MN, Parfitt, DA, Ramsden, CM, Schwarz, N   +15 more
core  

Plasticity of the human visual system after retinal gene therapy in patients with Leber's congenital amaurosis. [PDF]

, 2015
Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies.
Aravand, P, Ashtari, M, Baker, CI, Bennett, J, Cook, PA, Cyckowski, LL, Gee, JC, Maguire, AM, Marshall, KA, Shindler, KS, Vossough, A, Zhang, H   +11 more
core   +1 more source

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence

Clinical Ophthalmology, 2020
Jie Gao,1 Rehan M Hussain,2 Christina Y Weng1 1Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA; 2Retina Associates, Elmhurst, IL, USACorrespondence: Christina Y WengBaylor College of Medicine, Alkek Eye Center, 1977 Butler Blvd,
Gao J, Hussain RM, Weng CY
doaj  

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Janan Niknam, Arpineh Petrosyan, Victoria Agustin, Amanda Shoubaki, Kaylita Chantiluke   +4 more
wiley   +1 more source

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis [PDF]

, 2018
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration.
Bainbridge, JWB, Kalitzeos, A, Kumaran, N, Michaelides, M, Ripamonti, C, Rubin, GS   +5 more
core   +1 more source