RESUMEN
Introduction: Visual function and cognitive impairment are interrelated; however, little is known about the impact of modifying treatable vision impairment on the development of cognitive dysfunction. This study examines the relationship between cognition and self-reported visual function using the National Eye Institute's Visual Function Questionnaire (NEI VFQ). Methods: Participants completed the NEI VFQ 25-Item questionnaire as well as the Mini-Mental State Examination (MMSE). Additionally, all participants were assigned a consensus clinical diagnosis based on established criteria. We used a general linear model and analysis of variance approach to compare means between multiple groups. Results: A significant association between overall composite score on the NEI VFQ and total MMSE score was revealed (P = 0.04). On average, for every 1-point increase in MMSE score, the overall composite score increased by 0.40 units (95% confidence interval: 0.03-0.77). Discussion: Reduced visual function should raise concerns about cognitive decline and prompt additional assessment.
RESUMEN
Telomerase extends chromosome ends in somatic and germline stem cells to ensure continued proliferation. Mutations in genes critical for telomerase function result in telomeropathies such as dyskeratosis congenita, frequently resulting in spontaneous bone marrow failure. A dyskeratosis congenita mutation in TPP1 (K170∆) that specifically compromises telomerase recruitment to telomeres is a valuable tool to evaluate telomerase-dependent telomere length maintenance in mice. We used CRISPR-Cas9 to generate a mouse knocked in for the equivalent of the TPP1 K170∆ mutation (TPP1 K82∆) and investigated both its hematopoietic and germline compartments in unprecedented detail. TPP1 K82∆ caused progressive telomere erosion with increasing generation number but did not induce steady-state hematopoietic defects. Strikingly, K82∆ caused mouse infertility, consistent with gross morphological defects in the testis and sperm, the appearance of dysfunctional seminiferous tubules, and a decrease in germ cells. Intriguingly, both TPP1 K82∆ mice and previously characterized telomerase knockout mice show no spontaneous bone marrow failure but rather succumb to infertility at steady-state. We speculate that telomere length maintenance contributes differently to the evolutionary fitness of humans and mice.