Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups [PDF]
, 2016 Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but ...
Carr, A-JF +15 more
core
Orphanet Journal of Rare Diseases, 2007 Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the ...
Hamel Christian P
doaj +1 more source
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients [PDF]
, 2020 Leber congenital amaurosis (LCA) and early‐onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood.
Arno, G +5 more
core
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
Molecular vision, 2013 To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD).One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for adCOD and autosomal dominant cone-rod dystrophies ...
Xin, Zhao +5 more
openaire +1 more source
Distrofias hereditarias retinianas: Estudio retrospectivo descriptivo [PDF]
, 2019 Nuestro objetivo es analizar la distribución de las diferentes patologías que componen las Distrofias Hereditarias de la Retina (DHR), describir las características de los pacientes afectos, además de conocer la proporción de pacientes que tienen hecho
Orduz Montaña, Willian Andrés
core +1 more source
The importance of electrophysiological and imaging methods in the diagnostics of inherited retinal degenerations: Genotype-phenotype correlations [PDF]
, 2015 Zobor, Annamária Ditta
core +1 more source
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi, 2020 The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Leber congenital amaurosis type 1.
Yukito, Takeda +8 more
openaire +1 more source
The role of intraflagellar transport in cilia maintenance [PDF]
, 2017 "Cilia are microtubule-base protrusions from the surface of most cells in the human body. They can be found in species from all branches of the eukaryotic tree of life and were probably already present in the last eukaryotic common ancestor (Carvalho ...
Werner, Sascha
core
Molecular vision, 2012 To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients.Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect ...
Xueshan, Xiao +5 more
openaire +1 more source
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. [PDF]
Genes (Basel), 2023 Fujinami-Yokokawa Y +13 more
europepmc +1 more source