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Psychophysical and genetic study of color vision deficiency in humans with different pathologies

Grant number: 09/06026-6
Support Opportunities:Regular Research Grants
Duration: August 01, 2009 - July 31, 2012
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


The color vision deficiency can be acquired or hereditary. In the last case, clinical and genetic studies have showed a correlation between phenotype and genotype. Mutations, deletions and re-arrangements of the genes are responsible for partial or complete color vision deficiency. About 8% of men and 0,4% of women are born with color vision deficiency hereditary of the red-green type but the frequency varies due the born country. The purpose of this project is to correlate the lose of color vision discrimination with the sequencing of genes responsible for coding the visual pigments in the retina. The color vision will be evaluated clinically with psychophysical tests. Further, it will be studied the genetic causes of the color vision lose in different pathologies. Psychophysical and electrophysiology studies have showed that patients with LHON, diabetes and achromatopsia have a reduction or total lose of cone photoreceptor function. The genetic causes of that phenotype will be investigated. All genetic analysis will be done with blood samples and DNA extraction. After, the polymerase chain reaction (PCR) will be realized to amplify the polymorphism rs1617640 of the diabetics patients, the segments of the opsin L and M genes from LHON patients and patients with hereditary color vision deficiency, and the genes for cGMP channel from achromatic patients. The PCR products will be sequenced and analyzed. (AU)

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Scientific publications (7)
(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)
DANIELA MARIA OLIVEIRA BONCI; MAUREEN NEITZ; JAY NEITZ; LUIZ CARLOS DE LIMA SILVEIRA; DORA FIX VENTURA. The genetics of New World monkey visual pigments. Psychology & Neuroscience, v. 6, n. 2, p. 133-144, . (08/58731-2, 11/17423-6, 09/06026-6)
GALANTE ROCHA DE VASCONCELOS, FELIPE TADEU; VILANI NAMAN, MARIA JULIA; HAUZMAN, EINAT; BARON, JEROME; VENTURA, DORA FIX; OLIVEIRA BONCI, DANIELA MARIA. LWS visual pigment in owls: Spectral tuning inferred by genetics. VISION RESEARCH, v. 165, p. 90-97, . (11/17423-6, 09/06026-6, 14/25743-9, 08/58731-2)
HAUZMAN, EINAT; BONCI, DANIELA M. O.; GROTZNER, SONIA R.; MELA, MARITANA; LIBER, ANDRE M. P.; MARTINS, SONIA L.; VENTURA, DORA F.. Comparative Study of Photoreceptor and Retinal Ganglion Cell Topography and Spatial Resolving Power in Dipsadidae Snakes. BRAIN BEHAVIOR AND EVOLUTION, v. 84, n. 3, p. 197-213, . (08/58731-2, 11/17423-6, 09/06026-6)
ALTAVINI, TIAGO SIEBERT; HENRIQUES, LEONARDO DUTRA; OLIVEIRA BONCI, DANIELA MARIA; NAGY, BALAZS VINCE; VENTURA, DORA FIX; PESSOA, VALDIR FILGUEIRAS. Using the Hard, Randy, and Rittler Test to Evaluate Color Vision in Capuchins (Cebus libidinosus). INTERNATIONAL JOURNAL OF PRIMATOLOGY, v. 33, n. 6, p. 1467-1476, . (09/06026-6, 08/58731-2, 11/17423-6)
HAUZMAN, E.; BONCI, D. M. O.; SUAREZ-VILLOTA, E. Y.; NEITZ, M.; VENTURA, D. F.. Daily activity patterns influence retinal morphology, signatures of selection, and spectral tuning of opsin genes in colubrid snakes. BMC Evolutionary Biology, v. 17, . (08/58731-2, 14/25743-9, 14/26818-2, 11/17423-6, 09/06026-6)
GALANTE ROCHA DE VASCONCELOS, FELIPE TADEU; HAUZMAN, EINAT; HENRIQUES, LEONARDO DUTRA; KILPP GOULART, PAULO RONEY; GALVAO, OLAVO DE FARIA; SANO, RONALDO YUITI; SOUZA, GIVAGO DA SILVA; ALFARO, JESSICA LYNCH; DE LIMA SILVEIRA, LUIS CARLOS; VENTURA, DORA FIX; et al. A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). BMC GENETICS, v. 18, . (08/58731-2, 14/25743-9, 11/17423-6, 09/06026-6)
HAUZMAN, EINAT; KALAVA, VENKATASUSHMA; OLIVEIRA BONCI, DANIELA MARIA; VENTURA, DORA FIX. Characterization of the melanopsin gene (Opn4x) of diurnal and nocturnal snakes. BMC Evolutionary Biology, v. 19, n. 1, . (09/06026-6, 14/26818-2, 08/58731-2, 14/25743-9)

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