Incomplete achromatopsia in Bishnupur.
Nine males and 2 females from the Shankhabanik Community in Bishnupur, provisionally diagnosed as incomplete rod achromats by Bose, Joardar and Sukul in 1968, with 2 new similar males, were tested more fully with six colour vision tests. All had photophobia, nystagmus of fixation, extremely low visual acuity and extreme loss of colour sense with shortened red spectrum. 40 other males and 24 females, relatives of the defectives, were also tested for comparison. The provisional diagnosis was confirmed, and the hypothesis of autosomal inheritance seemed most probably true. Various details about the relatives emerged.
D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D012737:Sex Factors; D012880:Skin Pigmentation