Bishnupur achromats and their relatives (an exploratory study with six colour vision tests).
Thirteen subjects from the 'Sankhabaniks' of Bishnupur and two new similar cases were given six colour vision tests. All had photophobia, fixation nystagmus, low visual acuity and marked, though not complete, loss of colour sense. Forty other males and 24 females related to the defectives were also tested with at least five of the tests, for comparison. The tests were Ishihara, HRR test, Sloan's Achromatopsia test, the Dichotomous (D 15) test, Hundred Hue test and the Pickford-Nicolson Anomaloscope. The present research confirmed the provisional conclusion of Bose et al. (1968) that the achromatopsia in Bishnupur is an autosomal recessive character. That women relatives of the achromats showed greater average error scores with the Dichotomous test, the Hundred Hue test and the Sloan's test than male relatives, suggests that the defect is more readily manifested in males, and that the female relatives would include a number of genetic defectives with incomplete manifestation due to sex control. The defectives were clearly distinguished from the relatives as a group.
D000328:Adult; D003118:Color Perception; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007194:India; D008297:Male; D010375:Pedigree