Results 71 to 80 of about 9,112 (206)

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Giant Cyst of Dermis-Fat Graft in a Child with MRSA—Case Report

Children
Background/Objectives: This case report presents a unique case of multiple postoperative complications, including sterile silicone implant extrusion, symblepharon formation, and the development of a giant cyst, following extensive multimodal chemotherapy
Biljana Kuzmanović Elabjer, Mirjana Bjeloš, Ana Ćurić, Daliborka Miletić, Mladen Bušić   +4 more
doaj   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review

Diagnostics
Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy.
Alba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, Elena López, Anna Esteve-Garcia, Sergi Ruiz, Meritxell Vázquez, Laura Sararols, Marc Biarnés   +8 more
doaj   +1 more source

CRB1‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source

Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X‐Linked Retinoschisis: The AXIS Trial

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background This trial aimed to evaluate the efficacy of oral acetazolamide in reducing cystoid fluid collections (CFC) and improving visual function in patients with X‐linked retinoschisis (XLRS). Methods In this investigator‐initiated, single centre, open‐label, randomised controlled trial, XLRS patients aged ≥ 12 years with fovea‐involving ...
Jonathan Hensman, Hind Almushattat, Roselie M. H. Diederen, Tien‐En Tan, Peilun Dai, Coen de Vente, Daniel S. W. Ting, Maria M. van Genderen, Jeannette Ossewaarde‐van Norel, Redmer van Leeuwen, Martha J. H. Tjon‐Fo‐Sang, Clara I. Sánchez, M. Dominik Fischer, Maximilian Pfau, Jos W. R. Twisk, Camiel J. F. Boon   +15 more
wiley   +1 more source

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, EarlyView.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

[Gene therapy for retinal dystrophies].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2012
Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes. The first proof-of-concept clinical studies in patients with Leber's congenital amaurosis have suggested that retinal gene ...
Issa, P, Groppe, M, MacLaren, R
openaire   +3 more sources