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)

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

Two subjects representing AIED (Aland Island Eye Disease) and a family with 5 males affected with an AIED related X-linked hereditary eye disease were studied clinically and electrophysiologically. The clinical picture of AIED includes myopia and astigmatism, reduced visual acuity, nystagmus, ocular albinism, hemeralopia and dyschromatopsia (No. 300600, McKusick 1990). The subjects with the related disease showed astigmatism with or without myopia, reduced visual acuity, slight hemeralopia, normal color vision in 3/5 subjects, no ocular albinism and nystagmus only in one case. In both diseases the ERG was abnormal showing defective a- and b-waves, but there were also differences. The most notable was the greater reduction of the b-wave amplitude in the mixed (rod and cone) responses for the white stimulus in the ERG of the AIED related disease. With regard to the pathogenesis we propose that in both diseases rod and cone functions are defective but in an AIED related disease a defective cone function inhibits the transmission of the rod signals to the rod bipolars, causing greatly reduced mixed responses. The clinical and ERG findings of this study suggest that the 5 subjects of our family do not represent AIED but another X-linked hereditary eye disease. The investigation to find out the gene locus of this disease is going on.
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PMID:Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. 178 83

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

Spectral characteristics of X-linked Dichromats (13 protanopes, 20 deuteranopes) were studied with spectral ERG. The results are as follows: The maximal spectral response of the b-wave in protanopes tended to shift toward the short wavelength side and the sensitivity to long wavelengths decreased obviously. The ratio value of the amplitude in 500 nm and in 620 nm (500/620) was greater in the protanope than that in the normal subject. Like the normals, the maximal response of the b-wave in deuteranopes appeared at 550-570 nm. Though the differences between the normals and deuteranopes in the ratio values (600/620 and b/a at 520 nm) were found by means of analysing a, b wave responses at each wavelength, most of the ratio values (600/620 or b/a at 520 nm) overlapped between the normals and deuteranopes. We established the discriminant function or score made up by the combination of two ratios basing on Fisher's rule, which can raise the diagnostic rate for deuteranopes.
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PMID:Spectral characteristics of electroretinogram in X-linked dichromats--a preliminary study. 184 68

One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular area only, but with low potentials in the ERG. The locus for the disease was found to be distal to L1.28 at Xp21, the site for RP3. From a study of case histories reported it seems that clinical variability can be a common feature of X-linked retinitis pigmentosa (XLRP) with the locus at Xp11.3 (RP2) or at Xp21 (RP3), and this family may well be categorized as XLRP.
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PMID:Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site. 192 19

We used a suction electrode with a frosted front window to record a full-field (general) ERG, and a suction electrode with a short-focus lens and a red-green light diode to record a local ERG. As the suction electrode moved with the eye, the stimulus struck the macula in all positions of gaze. Our data showed that only mildly intense stimuli with an angular size of 10 to 15 degrees induced a retinal response, with a macular contribution of 70%. Patients with various dystrophic changes of the retina, such as Stargardt's dystrophy, vitelliform dystrophy of the Best type, X-linked juvenile retinoschisis, and age-related macular dystrophy of different stages, were examined. In patients with retinitis pigmentosa, the cones were involved in the pathologic process to varying degrees; the behavior of the local ERGs helped determine the final visual acuity. We also observed a reduction in the local ERG in patients with Stargardt's dystrophy that disappeared as the disease progressed. In age-related macular dystrophy, a disturbance of the electrogenesis mainly occurred in the central retina in advanced stages of the disease.
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PMID:Local ERG for clinical examination of eye diseases. 207 79

Out of five families with pedigrees typical for X-linked retinitis pigmentosa (RP) the authors examined eight definite and eight possible female carriers. Subjective symptoms were mild and variable, consisting mainly of relative nyctalopia. Ophthalmoscopic examination revealed a normal fundus, or mild changes suggestive of RP, or even marked changes. Perimetry (Goldmann) revealed some narrowing of the outer isopter corresponding to a significant reduction in visual field area. In testing dark adaptation, the final rod threshold was slightly elevated in five out of 16 subjects. Ganzfeld-electroretinography using matched band filters in conditions of dark and light adaptation to selectively stimulate rod and cone signals revealed reduced b-wave amplitudes in most cases. White stimuli, applied in dark adaptation, generated ERGs with less abnormality than the selective rod and cone ERGs. Peak times of the cone b-waves were prolonged in most cases. The ERG abnormalities were more pronounced in definite carriers and in advanced age. In some cases remarkable differences were noted between the two eyes as regards fundus morphology and ERG responses. The authors conclude that the possibility of improved genetic and educational counseling in families afflicted by X-linked RP justifies the considerable diagnostic effort involved in such examinations.
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PMID:[Electroretinography changes in carriers of X-chromosomal retinitis pigmentosa]. 340 50

X-linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established. Here, we describe the first DNA carrier detections in XLPCD.
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PMID:DNA carrier detection in X-linked progressive cone dystrophy. 807 8

Comparison of scotopic and photopic ERGs recorded using a variety of ERG electrodes show that contact lens electrodes produce the largest ERGs, and these are about 30-50% larger compared with those recorded with foil or thread electrodes, which contact a smaller part of the cornea. Flash ERGs recorded from infra-orbital skin electrodes are about one eighth the size of those recorded with contact lens electrodes, and around one quarter the size of those recorded with foil or fibre corneal electrodes. Reliable ERGs can be obtained in young children from infra-orbital electrodes sited centrally, within 1 cm of the rim of the eyelid, when signal averaging is used. Stimulation under fully darkened laboratory conditions with red and dim blue flashes permit assessment of cone and rod function, respectively. Factors such the recording electrode position, electrode derivation, upward rotation of the eye, eyelid closure and markedly constricted pupils can degrade the skin ERG. There are strong diagnostic advantages in recording the VEP concurrently with the skin ERG, particularly in young children. Examples of recordings in Leber's amaurosis, delayed visual maturation, albinism, optic nerve hypoplasia, achromatopsia add X-linked congenital stationary nightblindness are shown to demonstrate how ERG/VEP recordings can help in distinguishing between these conditions.
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PMID:Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode. 808 32


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