Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A survey of 40 individuals registered with the Canadian National Institute for the Blind (CNIB) as blind from congenital nystagmus revealed that an abnormal single gene was responsible for the disorder in 33 patients. Fifteen of these were due to autosomal recessive conditions while X-linked disorders accounted for another 15 patients. In 3 cases the pedigrees were consistent with both autosomal recessive or X-linked inheritance. A clearly defined environmental origin was present in 1 case while specific genetic or environmental factors were not detected in the remaining six patients. The albinism, achromatopsia and Leber's congenital amaurosis groups of disorders were those most frequently detected.
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PMID:Congenital nystagmus--genetic and environmental causes. 30 14

The Berson test for blue cone monochromatism discriminates X-linked blue cone monochromatism from achromatopsia but not from X-linked progressive c dystrophy.
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PMID:Berson test for blue cone monochromatism. 145 23

The diagnosis of blue cone monochromatism (BCM) is based on severely affected color vision with preserved blue function, nearly nonrecordable photopic ERG, and a family pedigree compatible with X-linked inheritance. We have studied the color vision and ocular function of three members of a family with BCM and a female carrier in the same family. Two of the three affected family members, 9- and 7-year-old brothers, showed the unique features of BCM in their color vision and ERG. The third affected family member, a 43-year-old uncle, showed achromatic vision. He had diabetic retinopathy and moderate cataract which were thought to disturb his blue cone function, causing apparent rod monochromatism. The female carrier, the mother of the brothers, showed normal visual functions except for a slight reduction in photopic ERG amplitude. We believe that this is the first description of BCM in a Japanese family.
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PMID:Japanese family with blue cone monochromatism. 151 61

The diagnosis of blue cone monochromatism (BCM) is based on severely affected color vision with preserved blue function, nearly absent photopic ERG, and a family pedigree compatible with X-linked inheritance. In the past, there has been no familial report of BCM in Japan. We found a Japanese family with BCM and studied the ocular findings of three affected members and a female carrier. Two of three affected members showed unique properties of BCM in their visual functions, including color vision and ERG. One affected member, a brother of their mother (43 years old), showed achromatic color vision. He had diabetic retinopathy and moderate cataract, which, might have disturbed his preserved blue cone function, resulting in the achromatic vision. A female carrier showed normal visual function, except that her photopic ERG was slightly reduced in amplitude.
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PMID:[The properties of visual functions and familial analysis in blue cone monochromatism]. 162 95

Eleven patients with X-linked and 9 patients with autosomal recessive achromatopsia were examined with full-field electroretinograms. In the standard full-field ERG's, normal rod responses were obtained, but the amplitude of the cone b-waves was not detectable. With computer averaging and narrow bandpass filtering, residual cone b-wave responses could be detected in 10 of the 20 patients. The residual cone b-wave amplitudes were markedly different in the 3 families with X-linked achromatopsia. In two of them, residual cone b-wave responses were seen in all patients examined. In contrast, such responses were seen only in 2 of 7 patients in the third family. There were also differences in other clinical observations (mainly in the visual acuity and refractive error) and we therefore suggest that there are at least two forms of X-linked achromatopsia. The ratios of the cone response amplitudes to 30 Hz flickering orange and blue-green light suggested that the defect in the X-linked achromatopsia patients was of the protanope type, whereas in the autosomal patients, both the protanope and the deutanope type was seen. In conclusion, measurements of the residual cone b-wave amplitude responses are of diagnostic and may possibly be of prognostic value when examining children and other members of families with achromatopsia.
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PMID:Electroretinograms in patients with achromatopsia. 178 84

A group of 64 children with poor vision and early onset nystagmus were investigated retrospectively by the electroretinogram (ERG). Fifty-eight of these children also underwent analysis of the visual evoked potential (VEP), and 40 underwent colour vision analysis. Seventeen children were found to have complete congenital achromatopsia (rod monochromatism), being identified by their total colour blindness, reduced visual acuity, and reduced or absent photopic and flicker (30 Hz) ERGs. Two children with incomplete X-linked congenital achromatopsia were also found. This study identified the need to investigate children with nystagmus by means of the ERG and suggested that the ERG was useful where the diagnosis was uncertain, particularly at early school age. The incidence of congenital achromatopsia in a group of otherwise undiagnosed children with early onset nystagmus was high (29%), with 40% being classified as having congenital idiopathic nystagmus.
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PMID:Value of the ERG in congenital nystagmus. 278 16

Carrier women in a family with X-linked incomplete achromatopsia (XLIA) were evaluated by means of ophthalmologic examinations, psychophysical tests, and electroretinography (ERG). Ophthalmologic examinations of five obligate carrier women and three women at 50% risk were normal except for the finding of high myopia in one carrier and one woman at risk. Detailed color vision testing was normal in all eight women. By contrast, the corneal full-field ERGs of three of five obligate carriers and two of three women at risk displayed major, qualitatively similar abnormalities of their cone components that were readily detected by our quantitative method. These b-wave alterations were similar in all five women regardless of refractive error. Our findings suggest that the ERG can identify some women who carry the gene for this X-linked recessive condition who are normal by clinical and psychophysical testing.
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PMID:Heterozygote detection in X-linked recessive incomplete achromatopsia. 326 10

We recorded full-field electroretinograms from seven female obligate carriers of X-linked blue cone monochromatism and eight daughters of obligate carriers. We observed that all obligate carriers had one or more of the following abnormalities: delayed cone b-wave implicit times to 30-Hz white flicker, loss of the a1 oscillation in responses to single flashes of white light under dark-adapted conditions, subnormal b-wave amplitudes to single flashes of white light under dark-adapted conditions, and subnormal cone responses to 30-Hz white flicker. All had normal rod responses to blue light. Three of eight daughters of obligate carriers had abnormal electroretinograms comparable to those recorded from obligate carriers. These obligate carriers have a partial but comparable deficiency of red and green cone function.
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PMID:Electroretinograms in carriers of blue cone monochromatism. 348 84

Five affected males in the fifth generation of a large pedigree of X-chromosomal incomplete achromatopsia were tested. All had SWS cone function. A 19-year-old affected man was a classical blue cone monochromat on color matching and spectral sensitivity. A 16-year-old boy showed evidence of a long wavelength sensitive cone active in 8 degrees color matches. With a blue-green background, his cone spectral sensitivity function peaked near 550-560 nm. Three younger boys, aged 7-10 yrs were evaluated only with color matching. All showed evidence of long wavelength cone function with an 8 degree field and one showed long wavelength cones in 2 degree matches. An independent observation concerning the family was the finding that deuteranomaly was introduced in the third generation. The fourth generation women, all obligate carriers of X-linked achromatopsia, had a 0.5 chance to carry deuteranomaly. Neither carrier state per se is usually associated with expression of deuteranomaly. Three of the five tested expressed deuteranomaly. This finding of deuteranomaly in the carrier females might be a consequence of a double carrier state indicating association between the genes for deuteranomaly and X-linked achromatopsia.
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PMID:X-linked incomplete achromatopsia with more than one class of functional cones. 660 Oct 89

Twenty-nine members of a black kindred with congenital X-linked incomplete achromatopsia were examined; nine affected males and seven carrier females were identified. The new findings of importance are the following: (1) this congenital disorder is a slowly progressive abiotrophy, with progressive macular scarring and cone dysfunction, rather than a stationary anomaly; (2) carrier females sometimes can be found by ophthalmoscopic and fluorescein angiographic abnormalities in the macula; and (3) genetic linkage studies give evidence against linkage with the locus for the Xg blood group, but they suggest possible linkage with the glucose-6-phosphate dehydrogenase locus.
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PMID:Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. 697 Oct 88


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