Results 21 to 30 of about 2,460,078 (269)

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population [PDF]

BMC Medical Genomics
Background Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far.
Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado   +6 more
doaj   +2 more sources

Retinal Phenotyping of Inherited Retinal Diseases [PDF]

, 2020
Inherited retinal diseases (IRD) are the leading cause of blindness in the working age population in England and Wales. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal landscape for establishing ...
Georgiou, Michalis
core   +3 more sources

Progress of iPSC-derived retinal organoids in the study of inherited retinal diseases [PDF]

Orphanet Journal of Rare Diseases
Inherited retinal diseases (IRDs) constitute a complex and heterogeneous group of rare disorders characterized by significant genetic diversity. These conditions often lead to the degeneration of photoreceptor cells, resulting in severe visual impairment.
Bochen Liu, Yi Liu, Haiyan Zhang, Jing Huang, Guohua Liu   +4 more
doaj   +2 more sources

Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3) [PDF]

Genes (Basel)
Background/Objective: Inherited retinal degenerations (IRDs) are the leading cause of blind registration in children and adults, yet 30–40% of cases remain genetically unresolved.
Moran, Bridget, Zhu, Julia, Farrar, G. Jane, Julia Zhu, Stephenson, Kirk A. J., Keegan, David J., David Keegan, Laura Whelan, G. Farrar, D. Flitcroft, Whelan, Laura, Jacqueline Turner, Dockery, Adrian, Bridget Moran, Kirk Stephenson, Marcus Conway, Conway, Marcus, Turner, Jacqueline, James O’Byrne, Flitcroft, D. Ian, O\u2019Byrne, James J., Adrian Dockery   +21 more
core   +2 more sources

A deep learning model for diagnosis of inherited retinal diseases [PDF]

Scientific Reports
To evaluate the performance of a multi-input deep learning (DL) model in detecting two common inherited retinal diseases (IRDs), i.e. retinitis pigmentosa (RP) and Stargardt disease (STGD), and differentiating them from healthy eyes. This cross-sectional
Freshteh Jafarbeglou, Hamid Ahmadieh, Farnaz Soleimani, Ali Karimi, Narsis Daftarian, Sahba Fekri, Tahmineh Motevasseli, Morteza Naderan, Babak Kamali Doust Azad, Abbas Sheikhtaheri, Farid Khorrami, Hemn Baghban Jaldian, Kia Bayat, Saeideh Shahbazi, Mahdi Yazdanpanah, Tahereh Sabbaghi, Kourosh Sheibani, Hadi Ghattan Kashani, Masoud Shariat Panahi, Hamideh Sabbaghi   +19 more
doaj   +2 more sources

The socioeconomic epidemiology of inherited retinal diseases in Portugal

Orphanet Journal of Rare Diseases
Background Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age.
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão   +17 more
doaj   +3 more sources

Genotype-specific retinal and choroidal perfusion patterns in inherited retinal diseases: an SS-OCTA analysis [PDF]

International Journal of Retina and Vitreous
Background Retinitis pigmentosa (RP), an inherited retinal disease, is characterized by progressive vision loss driven by the gradual degeneration of retinal photoreceptors.
Yu Rong, Junfeng Li, Jianquan He, Daowei Zhang, Jiawen Wu, Hongli Liu, Ting Li, Ping Xu, Qing Chang, Jihong Wu   +9 more
doaj   +2 more sources

Functional evaluation in inherited retinal disease [PDF]

British Journal of Ophthalmology, 2021
Functional assessments are a fundamental part of the clinical evaluation of patients with inherited retinal diseases (IRDs). Their importance and impact have become increasingly notable, given the significant breadth and number of clinical trials and studies investigating multiple avenues of intervention across a wide range of IRDs, including gene ...
Malena Daich Varela, Michalis Georgiou, Shaima A Hashem, Richard G Weleber, Michel Michaelides   +4 more
openaire   +3 more sources

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

, 2022
BACKGROUND: Emerging treatments are being developed for inherited retinal diseases, requiring a clear understanding of natural progression and a database of potential participants for clinical trials.
Britten-Jones, AC, O'Hare, F, Ayton, LN, Edwards, TL   +3 more
core   +8 more sources

Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases [PDF]

Clinical Ophthalmology
Ana Marta,1,2 André Ferreira,1,3,4 Inês Couto,1 Miguel Mesquita Neves,1 Miguel Gomes,1 Luis Oliveira,1 Celia Azevedo Soares,5– 8 Maria João Menéres,1,2 Carolina Lemos,2,8 João Melo Beirão1,2 1Department of Ophthalmology, Centro Hospitalar Universitário ...
Marta A, Ferreira A, Couto I, Neves MM, Gomes M, Oliveira L, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J   +9 more
doaj   +1 more source