Mechanisms, genetics and performance of the visual system: clinical research in humans and animal experiments

• Grant number: 22/00191-0
• Support Opportunities: Research Projects - Thematic Grants
• Start date: October 01, 2022
• End date: September 30, 2027
• Field of knowledge: Humanities - Psychology - Physiological Psychology
• Principal Investigator: Dora Selma Fix Ventura
• Grantee: Dora Selma Fix Ventura
• Host Institution: Instituto de Psicologia (IP). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Pesquisadores principais: Marcelo Fernandes da Costa
• Associated researchers: Alódia Brasil Costa ; Alvaro Rendon Fuentes ; Ana Laura de Araujo Moura ; Ana Maria de Lauro Castrucci ; Andre Russowsky Brunoni ; Aurelie GOYENVALLE ; Balazs Vince Nagy ; Belinda Chang ; Carlo Martins Gaddi ; Cyrille Vaillend ; Daniela Maria Oliveira Bonci ; David John Gower ; Einat Hauzman ; Elisabet Borg ; Fernando Allan de Farias Rocha ; Francisco Max Damico ; Givago da Silva Souza ; Jan Kremers ; Jerome Paul Armand Laurent Baron ; KALLENE SUMMER MOREIRA VIDAL ; Leonardo Dutra Henriques ; Letícia Miquilini de Arruda Farias ; Michele Pierotti ; Miguel Trefaut Urbano Rodrigues ; Mirella Gualtieri ; Mirella Telles Salgueiro Barboni ; Olavo de Faria Galvão ; Paulo Roney Kilpp Goulart ; Russell David Hamer ; Saulo Duarte Passos ; Silvana Alves Pereira ; Suellen Mary Marinho dos Santos Andrade
• Associated research grant(s): 24/05127-3 - Colour vision testing with natural stimuli and neural networks, AV.EXT; 23/07925-1 - Retinal electrodiagnosis in inherited and acquired diseases: experimental signal processing and genotype-phenotype correlations in patients, AV.EXT; 23/06080-8 - Multi-user equipment approved in grant 2022/00191-0: Retimap animal (Roland Consult), AP.EMU
• Associated scholarship(s): 24/15447-5 - Discrimination Between Substitution and Rotation of Visual Geometric Forms in a RSVP Protocol., BP.IC; 24/04395-4 - Melanopsin expression in the retinas of Strigiformes birds, BP.TT; 24/05568-0 - Genetic Analysis of Albinism, BP.IC; + associated scholarships 24/05578-5 - Electroretinogram in Melanopsin (Opn4) Knockout Mice, BP.IC; 24/00163-1 - The use of visual psychophysical and electrophysiological tests in the identification of biomarkers of progression in Alzheimer's Disease, BP.PD; 24/04014-0 - Development of software to conduct psychophysical tests to assess visual processing, BP.TT; 23/08095-2 - Use of VIsual Psychophysical and Electrophysiological Tests for the evaluation of different dystrophins in patients with Duchenne Muscular Dystrophy, BP.PD - associated scholarships

Abstract

The full functioning of the visual system may be threatened by various pathological conditions - genetic, environmental, infectious, neurological, metabolic - throughout life, in childhood, or in aging. Instruments to evaluate this functioning in humans may be behavioral or electrophysiological. A characteristic of these instruments is that they are non-invasive and, based on information grounded in animal experimentation, they are able to test specific visual pathways, or visual subsystems, such as color vision or contrast vision. The comparison of the altered performance with that from healthy individuals brings information that helps to unravel the mechanisms of the disorders. Research with laboratory animals, which allows direct access to the affected tissues, proves and adds information in the same direction. In this project we propose several new fronts, in particular the study of the vision of elderly patients and patients exposed to pandemic viral infections such as Zika and COVID-19. Thus, we propose to continue our successful development of new protocols and/or methodologies to study the visual system in humans and animals, and in this phase, in addition to developing new tests, to apply the tests we already designed in various populations with different impairments. The application of this knowledge will provide the medical field with tools for early diagnosis and follow-up. The project will investigate the visual system through perceptual testing with psychophysical methods; visual electrophysiological protocols; color vision, contrast vision, visual perimetry, dark adaptation and pupillometry. Pupillometry will allow us to evaluate functions of the pigment melanopsin, discovered at the beginning of the century, which is responsible for the pupillary reflex to light, the circadian rhythm and several other functions, such as seasonal depression. The color vision experiments will be combined with the genetic determination of each individual's visual pigments and these molecular techniques will be extended to several questions linked to the evolution of color vision in vertebrates with emphasis on asking about environmental and circadian habit pressures in this evolution. Our knowledge of animal visual electrophysiology will allow us to test and evaluate the toxicity and efficacy of new drugs for retinal diseases. Finally, this electrophysiological knowledge will be used to evaluate a gene therapy treatment for Duchenne Muscular Dystrophy. The development of new psychological technologies for investigating basic mechanisms and ways of applying visual functions to understand mechanisms of visual sensations and perceptions, as well as possible behavioral markers of ophthalmological, neurological and psychiatric diseases are an important part of this project. Measures of second-order contrast sensitivity will allow us to better understand the functioning of visual cortical sensory and perceptual areas, expanding the level of understanding of spatial functions in vision. Similarly, measures of the contribution of local and global processing stimuli in sustained attention will aid in understanding the different contributions of psychophysical pathways mediated by magnocellular and parvocellular cells in visual attention. In addition, we propose to develop second-order measures for motion perception, looking for evidence for asymmetries between the contributions of ON and OFF subsystems of the primary visual pathway. The project involves the basic and clinical research sectors of several national institutions, such as UFPA, UFPB, UFRN, Faculdade de Medicina of USP, UFMG and INPA, and international institutions, such as Friedrich-Alexander-Universität Erlangen-Nürnberg in Germany, CNRS and Université Paris-Sud in France, Sommelweis University and Budapest University of Technology and Economics in Hungary, University of Toronto in Canada, Smithsonian Regional Research Institute in Panama and the University of Stocholm in Swed (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

DALMASO, BARBARA; LIBER, ANDRE MAURICIO PASSOS; VENTURA, DORA FIX; JANCAR, SONIA; DEL DEBBIO, CAROLINA BELTRAME. Platelet-activating factor receptor (PAFR) regulates neuronal maturation and synaptic transmission during postnatal retinal development. FRONTIERS IN CELLULAR NEUROSCIENCE, v. 18, p. 17-pg., 2024-03-20. (20/11352-9, 15/24001-1, 19/00777-1, 22/00191-0)

BARAN, LUIZ C. P.; LIMA, DIEGO DA S.; SILVA, LEONARDO A.; TABARES, HEYDI S.; DIAS, SARAH L.; ZIN, ANDREA ARAUJO; MOREIRA, MARIA E. L.; DA COSTA, MARCELO F.; VENTURA, DORA F.. Visual Acuity alterations in heavily impaired Congenital Zika Syndrome (CZS) children. FRONTIERS IN OPHTHALMOLOGY, v. 2, p. 8-pg., 2022-11-29. (16/24631-8, 16/21573-7, 19/18487-0, 16/14793-0, 14/26818-2, 17/16948-4, 22/00191-0)

BARBONI, MIRELLA TELLES SALGUEIRO; JOACHIMSTHALER, ANNEKA; ROUX, MICHEL J.; NAGY, ZOLTAN ZSOLT; VENTURA, DORA FIX; RENDON, ALVARO; KREMERS, JAN; VAILLEND, CYRILLE. Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. PROGRESS IN RETINAL AND EYE RESEARCH, v. 95, p. 25-pg., 2023-07-01. (22/00191-0, 16/04538-3)