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Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease.

Neurobiol Dis

February 2025

Department of Physiology & Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address:

Huntington's disease (HD) is caused by the expansion of a CAG repeat, encoding a string of glutamines (polyQ) in the first exon of the huntingtin gene (HTTex1). This mutant huntingtin protein (mHTT) with extended polyQ forms aggregates in cortical and striatal neurons, causing cell damage and death. The retina is part of the central nervous system (CNS), and visual deficits and structural abnormalities in the retina of HD patients have been observed.

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Purpose: Propose new terminology and evaluate the effectiveness of Therapeutic Refractive Vitrectomy (TRV) for selective removal of vitreous floaters and opacities (VFO) utilizing Standardized Kinetic Anatomical Functional Testing of VFO (SK VFO Test) and new ultra widefield (UWF) OCT imaging techniques.

Methods: Retrospective analysis. Twenty eyes underwent TRV for symptomatic VFO.

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DNA methylation plays a crucial role in development, aging, degeneration of various tissues and dedifferentiated cells. This review explores the multifaceted impact of DNA methylation on the retina and brain during development and pathological processes. First, we investigate the role of DNA methylation in retinal development, and then focus on retinal diseases, detailing the changes in DNA methylation patterns in diseases such as diabetic retinopathy (DR), age-related macular degeneration (AMD), and glaucoma.

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Article Synopsis
  • The paper discusses the potential of carbon quantum dots (CQDs) as a dual-function tool for both inhibiting collagen fibers and using light to destroy them, which could provide a new treatment for eye floaters.
  • The authors express concern over the safety and efficacy of CQDs in this application, urging further research to fully understand their effects.
  • This study highlights the implications of using nanotechnology in medical treatments, particularly in addressing common visual issues like eye floaters.
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Abnormal outer and inner retina in a mouse model of Huntington's disease with age.

Front Aging Neurosci

October 2024

Guangdong-Hongkong-Macau Institute of CNS Regeneration, Key Laboratory of CNS Regeneration (Jinan University)-Ministry of Education, Guangdong Key Laboratory of Non-human Primate Research, Guangzhou, China.

Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor dysfunction and cognitive decline. While retinal abnormalities have been documented in some HD patients and animal models, the nature of these abnormalities-specifically whether they originate in the inner or outer retina-remains unclear, particularly regarding their progression with age. This study investigates the retinal structure and function in HD transgenic mice (R6/1) compared to C57BL/6 J control mice at 2, 4, and 6 months of age, encompassing both pre-symptomatic and symptomatic stages of HD.

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