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Article
Open AccessSpatiotemporal control of genome engineering in cone photoreceptors
Cones are essential for color recognition, high resolution, and central vision; therefore cone death causes blindness. Understanding the pathophysiology of each cell type in the retina is key to develo** the...
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Article
Open AccessMaternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes...
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Protocol
Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodology
Inherited retinal diseases ( ) encompass a large heterogeneous group of rare blinding disorders whose etiology originates from in the 280 genes identified to date. Clustered regularly interspaced short palin...
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Chapter and Conference Paper
Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing
The mouse and human retina contain three major Crumbs homologue-1 (CRB1) isoforms. CRB1-A and CRB1-B have cell-type-specific expression patterns making the choice of gene augmentation strategy unclear. Gene ed...
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Chapter and Conference Paper
Rod Photoreceptor-Specific Ablation of Metformin Target, AMPK, in a Preclinical Model of Autosomal Recessive Retinitis Pigmentosa
have shown tremendous progress in the past decade, but the sheer number of disease-causing makes their applicability challenging. In this study we test our hypothesis that retinitis pigmentosa-associated re...
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Protocol
Metabolite Extraction from RPE Cells and Retinas Related to Retinitis Pigmentosa
The application of metabolomics in ophthalmology helps to identify new biomarkers and elucidate disease mechanisms in different eye diseases, as well as aiding in the development of potential treatment options...
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Protocol
Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery
Due to the clinically established safety and efficacy profile of recombinant adeno-associated viral (rAAV) vectors, they are considered the “go to” vector for retinal gene therapy. Design of a rAAV-mediated ge...
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Chapter and Conference Paper
Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation
Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular degeneration. As PRPH2 is localized to cone and rod outer segm...
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Protocol
CRISPR Manipulations in Stem Cell Lines
Insights into genome engineering in cells have allowed researchers to cultivate and modify cells as organoids that display structural and phenotypic features of human diseases or normal health status. The gene...
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Protocol
Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery
Human retinal organoids derived from induced pluripotent stem cells (iPSCs) serve as a promising preclinical model for testing the safety and efficacy of viral gene therapy. Retinal organoids recapitulate the ...
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Article
Open AccessFoveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy
Bietti crystalline dystrophy (BCD) is an ultra-rare orphan disorder that can lead to blindness. Because of the variable rates of progression of the disease, it is necessary to identify suitable outcome measure...
