INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]
The Journal of Cell Biology, 1962 Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
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An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials. [PDF]
Int J Mol Sci, 2021 Chiu W +15 more
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Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
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Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics—A Study on 53 Eyes
Diagnostics, 2023 Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms ...
Katarzyna Samelska +4 more
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Inherited retinal dystrophies [PDF]
Paediatrics and Child Health, 2020 Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations.
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CRB1 mutations in inherited retinal dystrophies [PDF]
Human Mutation, 2011 Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar ...
Bujakowska, Kinga +13 more
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Scientific Reports, 2022 Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi +15 more
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Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
Life, 2023 Inherited retinal dystrophies (IRDs) are bilateral genetic conditions of the retina, leading to irreversible vision loss. This study included 55 eyes afflicted with IRDs affecting the macula.
Katarzyna Samelska +3 more
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Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases
Diagnostics, 2023 Adaptive optics (AO) retinal imaging enables individual photoreceptors to be visualized in the clinical setting. AO imaging can be a powerful clinical tool for detecting photoreceptor degeneration at a cellular level that might be overlooked through ...
Helia Ashourizadeh +6 more
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