Results 31 to 40 of about 429,850 (164)
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 +3 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 +9 more
doaj +1 more source
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 +5 more
doaj +1 more source
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 +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 +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 +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
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy [PDF]
, 2014 Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone ...
Kim, Chong A. +11 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
The research output of rod-cone dystrophy genetics
Orphanet Journal of Rare Diseases, 2022 Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal +6 more
doaj +1 more source