RESUMO
This paper is a brief account of the scientific work of J.B.S. Haldane (1892–1964), with special reference to early research in Human Genetics. Brief descriptions of Haldane's background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.
Assuntos
Defeitos da Visão Cromática/genética , Genética/história , Genética Humana/história , História do Século XX , Humanos , Endogamia/genética , Índia , Mutismo/genéticaRESUMO
As autoras relatam dois casos de discromatopsia hereditária e discutem a eficiência dos testes cromáticos no diagnóstico de uma discromatopsia. Os pacientes foram reprovados em diferentes concursos públicos federais por apresentarem diagnóstico de discromatopsia hereditária pelo teste de Ishihara. Submeteram-se a exame oftalmológico, com resultados dentro da normalidade. Procuraram novo parecer para melhor caracterização da sua discromatopsia. Não havia sintomas relacionados à deficiência. Os testes Panel D15 simples, D28 de Roth mostraram-se normais e o D15 dessaturado confirmou deutanomalia no caso 1. No segundo caso os testes de comparação mostraram alterações sem significado cromático. O diagnóstico de uma discromatopsia é muito complexo. As autoras destacam a importância de realização de testes de visão cromática complementares ao teste de Ishihara para diagnóstico de uma discromatopsia.
The authors describe two cases of hereditary dyschromatopsia and discuss the efficiency of the color vision tests. The patients were disapproved in different federal public examinations because Ishihara's test diagnosed hereditary dyschromatopsia. Ophthalmological evaluation was normal. No symptoms related to dyschromatopsia were presented. Panels D15 and Roth D 28 were normal. Desaturated D 15 showed deuteranomaly in case one. In the second case the comparative color vision tests showed nonspecific disorder. The diagnosis of dyschromatopsia is complex. The authors recommend comparative color vision tests to complement the Ishihara test for a better understanding of the color deficiency.
Assuntos
Adolescente , Adulto , Humanos , Masculino , Testes de Percepção de Cores/normas , Defeitos da Visão Cromática/diagnóstico , Testes de Percepção de Cores/métodos , Defeitos da Visão Cromática/genéticaRESUMO
PURPOSE: To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA. RESULTS: 47.6 of patients of OCA of all types included had a color vision defect. Of these, 55 were female and 45 were male patients. 50 of patients with the HPS (all types) had a color vision deficit. 42.9 of patients with OCA of unknown type had color weakness. 57.1 had normal color vision. CONCLUSIONS: Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity