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Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
Choroideremia is a rare, X-linked retinal degeneration resulting in progressive vision loss. A randomized, masked, phase 3 clinical trial evaluated...
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Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
Choroideremia is an inherited retinal disease characterised by a degeneration of the light-sensing photoreceptors, supporting retinal pigment...
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Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Several CHM gene replacement clinical trials are in...
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Multimodal Imaging in Choroideremia
Choroideremia (CHM) is associated with progressive degeneration of the retinal pigment epithelium (RPE), choriocapillaris (CC), and photoreceptors....
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Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia
Retinal gene therapy is increasingly recognized as a novel molecular intervention that has huge potential in treating common causes of blindness, the...
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Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testing strategies, such as...
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Introduction and Discovery of Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy. There are three main characteristics of RP: night blindness, retinal...
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X-linked Choroideremia
Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris,...
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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic...
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Gene Therapies in Clinical Development to Treat Retinal Disorders
Gene therapies have emerged as promising treatments in clinical development for various retinal disorders, offering hope to patients with inherited...
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Redox Status in Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy characterized by the progressive loss of vision. It is a rare...
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A multinational survey of potential participant perspectives on ocular gene therapy
Amidst rapid advancements in ocular gene therapy, understanding patient perspectives is crucial for sha** future treatment choices and research...
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Factors Affecting Readthrough of Natural Versus Premature Termination Codons
Nonsense mutations occur within the open-reading frame of a gene resulting in a premature termination codon (PTC). PTC-containing mRNAs can either be...
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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”...
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Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa
Medmont Dark-Adapted Chromatic (DAC) PerimeterMedmont Dark-Adapted Chromatic (DAC) Perimeter enables efficient and quantifiable evaluation of...
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Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome
BackgroundBardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved...
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Highly efficient capture approach for the identification of diverse inherited retinal disorders
Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we...
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Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration
Inherited retinal diseases (IRDs) comprise a clinically and genetically heterogeneous group of disorders that can ultimately result in photoreceptor...
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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation
Inherited retinal dystrophies (IRDs) affect 1 in 3000 individuals worldwide and are genetically heterogeneous, with over 270 identified genes and...
