Results 71 to 80 of about 27,235 (216)

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Italian Journal of Pediatrics, 2019
Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla   +6 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

Ophthalmological criteria for choice of optimal mode of delivery in pregnant women with myopia

Акушерство, гинекология и репродукция, 2019
This review examines the evolution of views and opinions on issues related to the management of pregnancy and childbirth in women with high myopia. Special attention is given to the threat of retinal detachment and its prevention during pregnancy and ...
O. V. Kolenko, E. L. Sorokin, A. A. Fil
doaj   +1 more source

Senior-Loken Syndrome with Rare Manifestations: A Case Report

Eurasian Journal of Medicine, 2019
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability ...
Harikrishan K. Aggarwal, Deepak Jain, Sachin Yadav, Vipin Kaverappa, Abhishek Gupta   +4 more
doaj   +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

EYE PATHOLOGIES IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (CASE REPORT AND LITERARY ANALYSIS)

Российский офтальмологический журнал, 2018
In addition to the classic Coats’ disease characterized by retinal vascular telangiectasias and aneurysmal dilatations surrounded by yellowish intra- and subretinal exudates and developing in somatically healthy children, Coats’-like retinal changes can ...
E. V. Denisova, L. A. Katargina, L. V. Kogoleva, M. V. Belova, N. A. Osipova, E. V. Fedoseeva   +5 more
doaj   +1 more source

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 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

[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