Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates termed Lafora bodies (LBs). This study characterizes the retinal phenotype in Epm2a−/− mice by examining knockout (KO) and control (WT) littermates at 10 and 14 months. In vivo exams included electroretinogram (ERG) testing, optical coherence tomography (OCT), and retinal photography, while ex vivo testing involved PASD staining to assess LB deposition. No significant differences were found in ERG parameters or retinal thickness between KO and WT mice. However, PASD staining revealed significant LB deposition in the inner and outer plexiform layers and the inner nuclear layer of KO mice. This study is the first to characterize the retinal phenotype in an Epm2a−/− mouse model, suggesting that retinal LB deposition could be used to monitor the efficacy of experimental treatments.

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The article emphasizes the importance of respecting individual uniqueness and cultural differences, arguing against imposing one's ways and thoughts onto others, especially children. It highlights the value of understanding what can and cannot be changed and the consequences of trying to force changes. The author uses metaphors and anecdotes to illustrate the potential harm of well-intentioned but misguided efforts to 'fix' others, advocating for patience and self-reflection instead.

The article discusses the importance of a positive work environment and company culture in enhancing employee productivity and mental health. It highlights the role of open conversations about mental health and suicide prevention, debunking myths about discussing suicide. The article showcases examples of companies like Google, Virgin Group, Cisco, and Engine Yard that have successfully created engaging and supportive work environments through various initiatives, including gamification. It also touches on the impact of the COVID-19 pandemic on workplace dynamics and the need for companies to adapt to new challenges.