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UnknownRetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Not available
S-EPMC12259000 | biostudies-literature
UnknownFunctional Interfaces, Biological Pathways, and Regulations of Interferon-Related DNA Damage Resistance Signature (IRDS) Genes.
Not available
S-EPMC8143464 | biostudies-literature
UnknownThe socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study.
Not available
S-EPMC12843553 | biostudies-literature
GenomicGenetic Analysis of Patients with Inherited Retinal Dystrophies (IRDs)

Genetic analysis of patients with Inherited Retinal Dystrophies (IRDs) was carried out by performing Whole Genome Sequencing (WGS). The main purpose of this study is to identify simple and complex mutations responsible for IRD in patients.

WGS was performed on selected affected and unaffe...

phs001619 | dbGaP
UnknownDevelopment of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Not available
S-EPMC10404030 | biostudies-literature
UnknownA Systematic Review and Meta-Analyses of Interventional Clinical Trial Studies for Gene Therapies for the Inherited Retinal Degenerations (IRDs).
Not available
S-EPMC8160708 | biostudies-literature
ProteomicsPCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina
Inherited retinal dystrophies (IRDs) are a group of debilitating visual disorders characterized by the progressive degeneration of photoreceptors, which ultimately lead to blindness. Among the causes of this condition, mutations in the PCYT1A gene, which encodes the rate-limiting enzyme responsible ...
ORGANISM(S): Mus musculus (Mouse) 
2025-06-09 | PXD051537 | Pride
Irds  pcyt1a  fatty acid metabolism  ferroptosis 
TranscriptomicsAutophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders
Inherited retinal diseases (IRDs) are a leading cause of blindness worldwide. One of the greatest barriers to developing treatments for IRDs is the heterogeneity of these disorders, with causative mutations identified in over 280 genes. It is therefore a priority to find therapies applicable to a br...
ORGANISM(S): Mus musculus 
2025-04-14 | GSE294049 | GEO
TranscriptomicsA universal protocol for isolating retinal ON bipolar cells across species via fluorescence-activated cell sorting - RNAseq of cell populations
Many inherited retinal dystrophies (IRDs) are characterized by progressive degeneration and loss of light-sensitive photoreceptors. The most promising treatment concept for IRDs is gene supplementation therapy with viral vectors, which relies on the presence of viable photoreceptors at the time of i...
ORGANISM(S): Macaca fascicularis 
2021-01-26 | E-MTAB-9685 | biostudies-arrayexpress
TranscriptomicsSingle-cell Sequencing of ABCA4-Mutant Human Retinal Organoids Reveals Organoids Application in Modeling Inherited Retinal Diseases
In the studies of Inherited Retinal Diseases (IRDs), the knockout of traditional animal models like mice often fails to accurately replicate human phenotypes due to genetic and anatomical differences. Human retinal organoids (ROs) derived from stem cells have emerged as promising developmental model...
ORGANISM(S): Homo sapiens 
2025-09-01 | GSE266191 | GEO
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