Results 51 to 60 of about 37,333 (227)

The research output of rod-cone dystrophy genetics

Orphanet Journal of Rare Diseases, 2022
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh   +6 more
doaj   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
ABSTRACT Recognition of systemic features such as polydactyly in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet–Biedl syndrome. Mild non‐pitting swelling of the hands—an incidental, non‐classical finding—was also noted, emphasizing the importance of thorough systemic examination in atypical presentations.
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +2 more sources

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Investigative Ophthalmology and Visual Science, 2019
Purpose To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Methods In this multicenter case series, we included 22 patients with RP1-associated retinal dystrophies from 19 families from The Netherlands and Japan.
S. K. Verbakel, Ramon A. C. van Huet, A. Hollander, M. Geerlings, E. Kersten, B. J. Klevering, C. Klaver, C. Klaver, A. Plomp, Nieneke L. Wesseling, A. Bergen, A. Bergen, K. Nikopoulos, Carlo Rivolta, Carlo Rivolta, Y. Ikeda, K. Sonoda, Y. Wada, C. Boon, C. Boon, T. Nakazawa, C. Hoyng, K. Nishiguchi   +22 more
semanticscholar   +1 more source

GNB1-Related Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Journal of Ophthalmic & Vision Research, 2020
Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi, Hamid Ahmadieh, Jalil Jalili, Nazanin Behnaz, Maryam Fakhri, Fatemeh Suri, Bahareh Kheiri, Mojtaba Rajabpour, Morteza Entezari, Narsis Daftarian   +9 more
doaj   +1 more source

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Characterising PRPF31‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To characterise the baseline clinical features and genotypes of adults with pre‐mRNA processing factor 31 (PRPF31)‐associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4‐year natural history study, and to explore correlations between selected baseline parameters.
Kathrine Olaussen Eriksen, Jon Roger Eidet, Ulrika Kjellström, Jacopo Baldesi, Ragnheidur Bragadóttir, Leonardo Colombo, Josephine Prener Holtan   +6 more
wiley   +1 more source

Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina. [PDF]

PLoS ONE, 2014
Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein, Alexandra Mendes-Madeira, Patrice Schlegel, Fabienne Rolling, Birgit Lorenz, Silke Haverkamp, Knut Stieger   +6 more
doaj   +1 more source