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Query: UNIPROT:P21817 (RyR1)
 1,154 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

As an exploratory study six colour vision tests were given to nine male and two female achromats from the Shankhabanik community in Bishnupur, and to two additional similar males. All thirteen subjects had severe photophobia, fixation nystagmus, extreme weakness of vision (4/24 to 3/60) and the red end of the spectrum was much shortened. This research indicates that they had a form of incomplete achromatopsia, varying from an almost complete to a very severe partial loss of colour vision. The condition is inherited as an autosomal recessive. The most likely interpretation of these cases is that they are incomplete rod achromats. Their performance on the colour vision tests is tabulated, and shows complete inability to do the Ishihara test; nearly complete inability on the HRR test, with a possible slight tendency to do better in the yellow-blue than the red-green sub-tests; on Sloan's test they show approximate accordance with her results for achromats; they have severe difficulty with the dichotomous and 100-hue tests, with a possible slight tendency to make fewer errors on the G/B sections. The anomaloscope shows little abnormality of mid-matching points, but great increases in average matching ranges above the normal, although not absolute loss of colour sense, but with extreme darkening or shortening of the red end of the spectrum. Their colour naming was carefully recorded, and was fairly good occasionally, sometimes erroneous without being wildly at fault, and most often completely wrong. The records of colour naming were made, not, of course, as a form of colour vision test, but simply to illustrate the ways in which such defectives make an effort to use colour names in general use among their friends and relatives.
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PMID:Colour vision tests and colour naming by thirteen incomplete achromats in Bishnupur. 31 98

Fifty children shunted for hydrocephalus aged 5-17 years underwent a later ophthalmological examination. Corrected vision of 0.9 or less was found in 45 out of 93 eyes; in 21 patients this was the vision of both eyes. Corrected vision 0.3 or less was found in 7 eyes; in 3 patients this was the vision of both eyes. Hyperopia greater than or equal to +2.0 D was found in 20%, myopia greater than or equal to -0.5 D in 13% and astigmatism greater than or equal to 1.0 D in 25.5% of 98 eyes. Clear nystagmus was present in 18% of patients. Heterophoria was found in 20% and manifest horizontal strabismus in 33%, but no paretic squint. The optic disc was considered normal in 36 out of 100 eyes on ophthalmoscopy and in 35 out of 78 eyes on colour photography. Retinal nerve fibre layer photographs showed normal nerve fibres in 49 out of 71 eyes. The Friedmann field was in the normal range in 33 out of 53 eyes, and the Goldmann field was normal in 37 out of 44 eyes. Right homonymous hemianopia was discovered in 2 patients. The Harrington-Flocks field was normal in 17 out of 24 eyes, and 1 patient had left homonymous hemianopia. The HRR test showed a red-green disturbance in 22 out of 71 eyes. The Farnsworth panel D-15 desaturated test was entirely normal in only 4 out of 65 eyes, but the errors were only slight in 48 cases.
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PMID:Ophthalmic changes in hydrocephalus. A follow-up examination of 50 patients treated with shunts. 357 10

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.
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PMID:Bishnupur achromats and their relatives (an exploratory study with six colour vision tests). 633 94