Results 31 to 40 of about 431,670 (160)

ROD-CONE INTERACTION IN THE GOLDFISH RETINA.

, 1976
ROD-CONE INTERACTION IN THE GOLDFISH ...
JEREMY MICHAEL. SHEFNER (7953944)
core   +6 more sources

Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

Acta Medica Iranica, 2020
Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients.
Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi   +3 more
doaj   +1 more source

Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

BMC Ophthalmology, 2021
Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field.
Yafang Wang, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun   +7 more
doaj   +1 more source

Alström Syndrome with Acute Pancreatitis: A Case Report

Kaohsiung Journal of Medical Sciences, 2003
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu, Shinn-Cherng Chen, Chia-Yen Dia, Ming-Lung Yu, Ming-Yuh Hsieh, Zu-Yau Lin, Liang-Yen Wang, Jung-Fa Tsai, Wen-Yu Chang, Wan-Long Chuang   +9 more
doaj   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 more
doaj   +1 more source

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations

Frontiers in Molecular Neuroscience, 2014
RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang, Jeanne M Frederick, Wolfgang eBaehr   +2 more
doaj   +1 more source

Developmental dynamics of cone photoreceptors in the eel [PDF]

, 2009
Background: Many fish alter their expressed visual pigments during development. The number of retinal opsins expressed and their type is normally related to the environment in which they live.
Bowmaker, JK, Ma'ayan Semo, Semo, M, Glen Jeffery, Phillippa B Cottrill, Jeffery, G, James K Bowmaker, David M Hunt, Hunt, DM, Davies, WL, Wayne L Davies, Cottrill, PB   +11 more
core   +1 more source

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, Penny Clouston, Robert E. MacLaren   +4 more
doaj   +1 more source

Curvilinear Pigmentary Lesions in a Rod-Cone Dystrophy

, 2005
Purpose To report a peculiar curvilinear pigmentary lesion in the peripheral fundus in a rod-cone dystrophy. Methods Observational case report. Fundus examination of a 57-year-old woman who was known to have a generalized rod-cone dystrophy since she was
Y. Tamaki, M. Sawa, L.A. Yannuzzi
core   +1 more source