Results 31 to 40 of about 60,185 (237)

Mechanisms of Photoreceptor Death in Retinitis Pigmentosa

Genes, 2020
Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene ...
Fay G. Newton, R. Megaw
semanticscholar   +1 more source

Uveitis Anterior Asociado a Retinitis Pigmentosa: Reporte de un Caso

Revista Oftálmica, 2022
Objetivo: Reportar el caso de una paciente con antecedentes de esclerosis múltiple, diagnosticada con retinitis pigmentosa, y presenta cuadros de uveítis anterior a recurrencia.
Alice Smith
doaj   +1 more source

A rare case of senior loken syndrome

TNOA Journal of Ophthalmic Science and Research, 2020
Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome.
Jaisingh Ramapriyadharshini, Krishnamurthy Ilango, Elango Vidhya   +2 more
doaj   +1 more source

Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report

Journal of Medical Case Reports, 2011
Introduction Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision.
Tsai Frank F, Igbre Ann O, Najjar Dany M
doaj   +1 more source

Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa

Antioxidants, 2020
Long non-coding RNAs (lncRNAs) are untranslated transcripts which regulate many biological processes. Changes in lncRNA expression pattern are well-known related to various human disorders, such as ocular diseases.
L. Donato, C. Scimone, Simona Alibrandi, C. Rinaldi, A. Sidoti, R. D’Angelo   +5 more
semanticscholar   +1 more source

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

Journal of Medical Case Reports, 2023
Background Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision.
Yi-shuang Xiao, Wen-Ji He, Hong-chao Jiang, Li Tan, Jing Ma, Zhen Zhang   +5 more
doaj   +1 more source

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

Molecular Genetics & Genomic Medicine, 2020
This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP).
Handong Dan, Xin Huang, Y. Xing, Yin Shen   +3 more
semanticscholar   +1 more source

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

BMC Ophthalmology, 2021
Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
doaj   +1 more source

A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa

Annals of Abbasi Shaheed Hospital and Karachi Medical & Dental College, 2022
: Retinitis pigmentosa (RP) is a group of inherited rod-cone degenerative pathologies that present clinically with similar signs and symptoms. Common fundus findings include bone-spicule pigment formation, attenuated blood vessels in the posterior pole ...
Malab Sana Balouch, Muhammad Shahbaz, Mohammad Moaz Balouch   +2 more
doaj   +1 more source

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association

Case Reports in Ophthalmology, 2015
Aim: To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. Methods: A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years.
A.P. Vignesh, Renuka Srinivasan, Swathi Karanth, Sai Vijitha   +3 more
doaj   +1 more source