Results 241 to 250 of about 2,460,078 (269)

Refractive Error in Inherited Retinal Disease

American Journal of Ophthalmology
Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (REs) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in better management of patients with IRD and provide insights into ...
Shaden H. Yassin, Naomi E. Wagner, Thomas Khuu, Ryan Schmidt, Austin D. Igelman, Molly Marra, Hilary Schwartz, Evan Walker, Aaron Nagiel, Paul Yang, Lesley A. Everett, Mark E. Pennesi, Shyamanga Borooah   +12 more
openaire   +2 more sources

Inherited retinal disease-associated uveitis

Survey of Ophthalmology
Inherited retinal diseases (IRDs) are genetic disorders characterized by progressive photoreceptor function loss, often leading to significant visual impairment. Uveitis has been increasingly recognized in the clinical course of some IRDs. Despite advances in understanding the genetic causes and pathophysiology of IRDs, gaps remain in understanding the
Jia-Horung, Hung, Tanya, Jain, Anadi, Khatri, Ba Trung, Nguyen, Celine Dan-Tam, Nguyen, Negin, Yavari, Azadeh, Mobasserian, Irmak, Karaca, S, Saeed Mohammadi, Ankur Sudhir, Gupta, Chi Mong Christopher, Or, Amir, Akhavanrezayat, Cigdem, Yasar, Aim-On, Saengsirinavin, Ngoc Trong Tuong, Than, Frances Andrea, Anover, Osama, Elaraby, Dalia, El Feky, Woong-Sun, Yoo, Xiaoyan, Zhang, Zheng Xian, Thng, Diana V, Do, Quan Dong, Nguyen   +22 more
openaire   +2 more sources

Identification and Analysis of Inherited Retinal Disease Genes

2012
Inherited retinal diseases display a very high degree of clinical and genetic heterogeneity, which poses challenges in identifying the underlying defects in known genes and in identifying novel retinal disease genes. Here, we outline the state-of-the-art techniques to find the causative DNA variants, with special attention for next-generation ...
Neveling, K., Hollander, A.I. den, Cremers, F.P.M., Collin, R.W.J.   +3 more
openaire   +3 more sources

Retinal miRNAs variations in a large cohort of inherited retinal disease

Ophthalmic Genetics, 2017
Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD.
Xiu-Feng, Huang, Zhi-Qin, Huang, Xiao-Long, Fang, Zhen-Ji, Chen, Wan, Cheng, Zi-Bing, Jin   +5 more
openaire   +2 more sources

Photophobia in inherited retinal disease

Acta Ophthalmologica, 2007
AbstractPurpose To describe the phenotypes and genotypes of photophobia due to inherited retinal disease.Methods A case presentation format will be used to illustrate different genetically determined conditions leading to photophobia. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed.Results Phenotypes and ...
openaire   +1 more source

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

Progress in Retinal and Eye Research, 2022
Dror Sharon, Shay Ben-Aroya, Erez Y. Levanon   +2 more
exaly  

Gene therapy for inherited retinal diseases: progress and possibilities

Australasian journal of optometry, The, 2021
Lauren N. Ayton, Jiang-Hui Wang, Doron Hickey   +2 more
exaly  

miR‐181a/b downregulation: a mutation‐independent therapeutic approach for inherited retinal diseases

EMBO Molecular Medicine, 2022
Brunella Franco, Alberto Auricchio, Alessia Indrieri   +2 more
exaly  

Retinal vessel oximetry in children with inherited retinal diseases

Acta Ophthalmologica, 2021
Margarita G Todorova, Maria Waizel, Hendrik Scholl   +2 more
exaly  

Inherited Retinal Disease

2022
openaire   +1 more source