RESUMEN
Omega-3 and omega-6 polyunsaturated fatty acids (PUFAs) play critical roles in membrane stability and cell signaling within the retina. ELOVL2 (Elongation of Very Long Chain Fatty Acids-Like 2), an elongase involved in the synthesis of long chain polyunsaturated fatty acids (LC-PUFAs), has recently been implicated in regulating aging in the mammalian retina. In this work, we characterize the expression and function of elovl2 in the retina development in embryonic zebrafish. Whole mount in situ hybridization shows elovl2 is expressed in the Muller glia in embryonic and adult zebrafish. Lipidomics analysis of elovl2 crispants whole embryos at day 2 and eyes at day 7 demonstrated significant changes in lipids composition, especially on the level of lipids containing docosahexaenoic acid (DHA). Histological analysis of zebrafish lacking elovl2 revealed increased retinal thickness compared to controls at day 7 without gross disruptions of the retinal architecture. Finally, elovl2 crispants showed differences in the visual motor reflex light off (VMR-OFF) at day 7 compared to controls. In sum, inactivation of elovl2 in zebrafish embryos caused changes in lipid composition and in visual behavior, further confirming the important role of LC-PUFAs in healthy vision.
Asunto(s)
Acetiltransferasas/fisiología , Regulación del Desarrollo de la Expresión Génica , Retina/embriología , Retina/fisiología , Visión Ocular , Proteínas de Pez Cebra/fisiología , Acetiltransferasas/metabolismo , Animales , Ácidos Docosahexaenoicos/metabolismo , Ácidos Grasos Insaturados/metabolismo , Hibridación in Situ , Lipidómica , Lípidos/química , Neuroglía/metabolismo , Fenotipo , Pez CebraRESUMEN
PURPOSE: We evaluate patient-reported quality of life outcomes in severely visually impaired (SVI) individuals using the Aira system, an on demand assistive wearable technology. METHODS: Aira is an on-demand assistive wearable technology designed for the severely visually impaired (visual acuity of better eye <20/200). The user wears glasses with a video camera mounted that, when activated, livestreams to a human agent who assists the user in the specified task. Aira subscribers were recruited consecutively and administered the 28-item Impact of Vision Impairment-Very Low Vision (IVI-VLV) Questionnaire, a previously validated survey for vision-related quality of life specifically for low vision individuals. The questionnaire was administered by phone before starting Aira and at 3-month follow-up. Total score as well as validated subset scores of activities of daily living, mobility and safety (ADLMS) and emotional wellbeing (EWB) were assessed. RESULTS: A total of 69 participants (mean age, 52.1; 35 female, 34 male) were recruited with a mean of 108 (SD = 19.7) days to follow-up. Mean total minutes used over the interval were 334.1 (SD = 318.5). Initial total score (mean 51.7 ± 18.6) significantly improved at follow-up (mean 62.2 ± 15.0; P < 0.0001) with mean change +10.4 ± 12.5. ADLMS subset score (mean 30.4 ± 10.8) significantly improved at follow-up (mean 36.6 ± 8.8; P < 0.0001) with mean change +6.5 ± 8.7. EWB subset score (mean 21.6 ± 8.8) significantly improved at follow-up (mean 25.6 ± 7.9 respectively; P < 0.0001) with mean change +4.0 ± 5.2. There was no correlation between minutes used and improvement in total (r = -0.205, P = 0.098), ADLMS (r = -0.237, P = 0.055), and EWB (r = -0.242, P = 0.051) scores. CONCLUSIONS: In this exploratory study, regardless of minutes used, the use of Aira significantly improves IVI-VLV total score and ADLMS and EWB subscores for SVI individuals. This improvement is not correlated with total minutes used. TRANSLATIONAL RELEVANCE: The Aira assistive technology system may provide improvement in quality of life for low vision patients and is worthy of further study to assess the use of this technology to assist SVI patients.