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Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters.
Stem Cell Res
December 2024
Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address:
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters.
View Article and Find Full Text PDFBenign Yellow Dot Maculopathy: A Case Series of Patients With a Recently Discovered Macular Phenotype.
Cureus
November 2024
Department of Ophthalmology, Unidade Local de Saúde (ULS) Santa Maria, Lisbon, PRT.
Benign yellow dot maculopathy (BYDM) is a recently described rare, asymptomatic, early onset, and non-progressive macular phenotype. It is characterized by the presence of multiple white-yellow dots encircling the fovea, which are hyperautofluorescent on fundus autofluorescence. Here, we expand on the few reports available by presenting a case series of five Portuguese patients with clinical BYDM phenotype and congruent multimodal imaging, including the second reported unilateral case.
View Article and Find Full Text PDFA 52-year-old man from Somalia with an asymptomatic macular hemorrhage.
Retin Cases Brief Rep
October 2024
Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Bilateral Retinal Nerve Fiber Layer Thickening in a Middle-Aged Woman.
JAMA Ophthalmol
December 2024
Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Deciphering the role of exosomal derived regulatory noncoding RNAs as potential biomarkers for diabetic retinopathy: a systematic review.
Int J Retina Vitreous
December 2024
Division of Medical Research, Faculty of Medicine and Health Sciences, SRM Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Kattankulathur, Chengalpattu, Tamil Nadu, 603203, India.
About one-third of individuals with diabetes develop diabetic retinopathy (DR), with one-tenth experiencing vision-threatening conditions such as diabetic macular edema (DME) or proliferative diabetic retinopathy (PDR). Current treatments only show recovery in 50% of cases, and the disease often remains asymptomatic. Therefore, novel early detection methods and new biomarkers are crucial.
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