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Inherited Retinal Diseases and Retinal Organoids as Preclinical Cell Models for Inherited Retinal Disease Research [PDF]
GenesInherited retinal diseases (IRDs) are a large group of genetically and clinically diverse blinding eye conditions that result in progressive and irreversible photoreceptor degeneration and vision loss.
Brian G Ballios, Kristen Ashworth
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Retinal Imaging Findings in Inherited Retinal Diseases
Journal of Clinical MedicineInherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic ...
Jasaman Tojjar +2 more
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Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges [PDF]
Genes, 2019 Contains fulltext : 208528.pdf (Publisher’s version ) (Open Access)Inherited retinal diseases (IRDs) are both genetically and clinically highly heterogeneous and have long been considered incurable.
Alex Garanto +2 more
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Splicing mutations in inherited retinal diseases
Progress in Retinal and Eye Research, 2021Mutations which induce aberrant transcript splicing represent a distinct class of disease-causing genetic variants in retinal disease genes. Such mutations may either weaken or erase regular splice sites or create novel splice sites which alter exon recognition.
Nicole, Weisschuh +2 more
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The Role of Microglia in Inherited Retinal Diseases
2023Inherited retinal diseases (IRDs) are a leading cause of irreversible visual loss in the developed world. The primary driver of pathology in IRDs is pathogenic genetic variant. However, there is increasing evidence, from recent studies, for a role of the immune system in disease mechanism, particularly retinal microglia.
Asha, Kumari, Shyamanga, Borooah
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2018
The successful sequencing of the human genome and invention of new molecular tools such as gene modification technologies and virus-mediated gene delivery systems have changed our understanding and treatment approaches toward inherited retinal disorders.
Ala Moshiri, Amirfarbod Yazdanyar
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The successful sequencing of the human genome and invention of new molecular tools such as gene modification technologies and virus-mediated gene delivery systems have changed our understanding and treatment approaches toward inherited retinal disorders.
Ala Moshiri, Amirfarbod Yazdanyar
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Neurotrophic Factors in the Treatment of Inherited Retinal Diseases
Cold Spring Harbor Perspectives in Medicine, 2023Inherited retinal diseases (IRDs) are the leading cause of blindness in working-age individuals worldwide. Their genetic etiology is especially heterogenous, so the development of gene-specific therapies is unlikely to meet the medical needs of the entire patient community.
Laure, Blouin +2 more
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Acta Ophthalmologica, 2012
AbstractPurpose To illustrate several inherited retinal dystrophies and dysfunctions and their management in the ophthalmic genetic clinic.Methods A case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions.
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AbstractPurpose To illustrate several inherited retinal dystrophies and dysfunctions and their management in the ophthalmic genetic clinic.Methods A case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions.
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Intravitreal enzyme replacement for inherited retinal diseases
Current Opinion in Ophthalmology, 2023Purpose of review This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease. Recent findings ERT is being explored in CLN2 related Batten ...
Ana Catalina, Rodriguez-Martinez +2 more
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OUTER RETINAL TUBULATION IN INHERITED RETINAL DEGENERATIVE DISEASE
Retina, 2013To investigate the prevalence and characteristics of outer retinal tubulation (ORT) seen in inherited retinal degenerative diseases.A total of 354 eyes of 177 patients were examined with spectral domain optical coherence tomography. One hundred and twelve patients had retinitis pigmentosa, 58 patients had cone dystrophy, and 7 patients had the Bietti ...
Aya, Iriyama +2 more
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