Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the RS1 gene

Ophthalmic Genetics, Год журнала: 2025, Номер unknown, С. 1 - 4

Опубликована: Март 16, 2025

Introduction In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and patient's age might be most important determinants of XLRS phenotype. this case report, we present fraternal twins with same mutation who were examined at yet exhibited significantly different phenotypes.

Язык: Английский

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A review of the 661W cell line as a tool to facilitate treatment development for retinal diseases

Cell & Bioscience, Год журнала: 2025, Номер 15(1)

Опубликована: Апрель 1, 2025

Abstract Retinal diseases encompass a diverse group of disorders that affect the structure and function retina, leading to visual impairment and, in some cases, irreversible vision loss. The investigation retinal is crucial for understanding their underlying mechanisms, identifying potential therapeutic targets, developing effective treatments. use vitro cell models has become instrumental advancing our knowledge these disorders, but given conditions usually neuronal types, access appropriate can be potentially challenging. Among available models, 661W cone-like line emerged as valuable tool studying various diseases, ranging from monogenic conditions, such inherited complex age-related macular degeneration (AMD), diabetic retinopathy, amongst others. Developed immortalized murine photoreceptor cells, freely academics its creator, offered scientists clinicians around world reliable well-characterised platform investigating disease pathogenesis, exploring disease-specific molecular signatures, evaluating interventions. This review aims provide an overview applications study both acquired diseases. By examining limitations this unique line, we may gain insights into contributions unravelling complexities impact on development novel treatments

Язык: Английский

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Multidisciplinary Approaches in the Treatment of Retinal Degenerative Diseases: A Review

Advanced Therapeutics, Год журнала: 2023, Номер 7(2)

Опубликована: Ноя. 21, 2023

Abstract Retinal degenerative diseases (RDDs) cause irreversible blindness and affect ≈285 million individuals worldwide. The unavailability of treatment to stop the progression RDDs or restore normal visual function necessitated development novel therapeutic strategies. In recent years, multidisciplinary approaches have shown great potential for RDDs, including intraocular delivery systems, retinal scaffolds cell therapy, prostheses with different stimulation This review focuses on prospects shortcomings various RDDs. results this will hopefully inspire further innovation in design RDD accelerate their commercialization.

Язык: Английский

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Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations

Cell Death and Disease, Год журнала: 2024, Номер 15(9)

Опубликована: Сен. 18, 2024

Язык: Английский

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