Results 51 to 60 of about 595 (159)

Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review

Clinical &Experimental Ophthalmology, Volume 50, Issue 6, Page 667-677, August 2022., 2022
Abstract Human pluripotent stem cells (hPSCs), which include induced pluripotent stem cells and embryonic stem cells, are powerful tools for studying human development, physiology and disease, including those affecting the retina. Cells from selected individuals, or specific genetic backgrounds, can be differentiated into distinct cell types allowing ...
Jenna C Hall, Daniel Paull, Alice Pébay, Grace E. Lidgerwood   +3 more
wiley   +1 more source

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations

Stem Cell Research, 2021
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of BCD patient with CYP4V2 ...
Shijing Wu, Tian Zhu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui   +6 more
doaj   +1 more source

Inherited retinal diseases: Therapeutics, clinical trials and end points—A review

Clinical &Experimental Ophthalmology, Volume 49, Issue 3, Page 270-288, April 2021., 2021
Abstract Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood.
Michalis Georgiou, Kaoru Fujinami, Michel Michaelides   +2 more
wiley   +1 more source

Near‐Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

Journal of Ophthalmology, Volume 2021, Issue 1, 2021., 2021
Near‐infrared reflectance (NIR) is a noninvasive, contactless, and rapid in vivo imaging technique for visualizing subretinal alterations in the photoreceptor layer, retinal pigment epithelium, and choroid. The present report describes the application of this imaging method in retinal and choroidal pathologies affecting young patients where scarce ...
Solmaz Abdolrahimzadeh, Chiara Ciancimino, Flaminia Grassi, Edoardo Sordi, Serena Fragiotta, Gianluca Scuderi, Mário Monteiro   +6 more
wiley   +1 more source

Multimodal imaging of Bietti crystalline dystrophy

Indian Journal of Ophthalmology. Case Reports
Manavi D Sindal, Bholesh Ratna, Mihir Vaidya, S Sivaranjani   +3 more
doaj   +2 more sources

Genetics of Bietti Crystalline Dystrophy

Asia-Pacific Journal of Ophthalmology, 2016
Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. CYP4V2 has been identified as the causative gene for BCD.
Danny S C, Ng, Timothy Y Y, Lai, Tsz Kin, Ng, Chi Pui, Pang   +3 more
openaire   +2 more sources

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa

Molecular Genetics &Genomic Medicine, Volume 8, Issue 3, March 2020., 2020
The gene variants identified in this study expand the variant frequency and spectrum of RP genes. The identification of these variants supplies foundational clues for future RP diagnosis and therapy. Abstract Background This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP)
Handong Dan, Xin Huang, Yiqiao Xing, Yin Shen   +3 more
wiley   +1 more source

Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy. [PDF]

Eye (Lond)
OBJECTIVES: Bietti Crystalline Dystrophy (BCD) is an autosomal recessive progressive retinal disease caused by mutations in CYP4V2. We have characterised the natural history including structural and functional measures to identify potential outcome ...
Cheloni R, Clough N, Jackson D, Moosajee M.   +3 more
europepmc   +2 more sources

Autofluorescence of choroidal vessels in Bietti’s crystalline dystrophy [PDF]

BMJ Open Ophthalmology, 2020
Objective To describe the pattern of fundus autofluorescence (FAF) in Bietti’s crystalline dystrophy (BCD). Methods and analysis From the National Institutes of Health EyeGene database of 2769 patients with known pathogenic mutations, 5 patients ...
Hossein Ameri, Erin Su, Tyler J Dowd-Schoeman   +2 more
openaire   +3 more sources

OCT Angiography and En Face OCT Reflectance Aid in Monitoring Subclinical Inflammation in Serpiginous Choroidopathy

Case Reports in Ophthalmological Medicine, Volume 2020, Issue 1, 2020., 2020
Introduction. We present a case of serpiginous choroidopathy (SC) with novel OCTA and en face OCT reflectance findings which help identify subclinical disease progression. Case Presentation. En face OCT reflectance images demonstrated outer retinal tubules (ORT) at the serpiginous lesion margins of affected and unaffected retina on multimodal imaging ...
Carl S. Wilkins, Jorge S. Andrade Romo, Toco Y. P. Chui, Richard B. Rosen, Stephanie Llop, Takaaki Hayashi   +5 more
wiley   +1 more source