Results 61 to 70 of about 12,927 (274)
Medical management of hereditary optic neuropathies. [PDF]
, 2014 Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero +4 more
core +1 more source
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
Chinese Medical Journal, 2017 Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16%
Jing Liu, Juan Bu
doaj +1 more source
Antisense oligonucleotide-based splicing correction in individuals with leber congenital amaurosis due to compound heterozygosity for the c.2991+1655A>G mutation in CEP290 [PDF]
, 2018 Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the most
Bax, N.M. (Nathalie) +7 more
core +1 more source
Stem Cell Research, 2019 The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the ...
Nejla Erkilic +6 more
doaj +1 more source
Güncel Retina Dergisi (Current Retina Journal), 2021 Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there ...
openaire +1 more source
Stem Cell Research, 2020 Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells ...
Hyeyeon Park +4 more
doaj +1 more source
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7 [PDF]
, 2016 BackgroundThe reduced cost and improved efficiency of whole genome sequencing (WGS) is drastically improving the development of cats as biomedical models.
Alhaddad, Hasan +8 more
core +3 more sources
bioRxiv, 2020 The inherited childhood blindness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction and degeneration of photoreceptors.
G. Aguirre +11 more
semanticscholar +1 more source
fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis. [PDF]
PLoS ONE, 2014 A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli.
Manzar Ashtari +7 more
doaj +1 more source
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Investigative Ophthalmology and Visual Science, 2020 Purpose To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5. Methods Five patients (ages 6–31) with LCA and biallelic LCA5 mutations underwent an ophthalmic examination ...
K. Uyhazi +11 more
semanticscholar +1 more source