Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with a characteristic picture of rubella eye disease is presented. Its interest lies in the associated finding of asymmetric nystagmus and ocular flutter. The presence of flutter would indicate cerebellar or cerebellar pathway disease, a previously unassociated finding.
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PMID:Abnormal eye movements in rubella syndrome. 92 42

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

Aland Island eye disease (AIED) is an X-chromosomal disorder characterized by reduced visual acuity, progressive axial myopia, regular astigmatism, latent nystagmus, foveal hypoplasia, defective dark adaptation, and fundus hypopigmentation. The syndrome was originally reported in 1964 in a family on the Aland Islands. To determine the localization of the AIED gene, linkage studies were performed in this family. total of 37 polymorphisms, covering loci on the entire X chromosome, were used. By two-point analysis the strongest evidence for linkage was obtained between AIED and DXS255 (maximum lod score [Zmax] 4.92 at maximum recombination fraction [theta max] .00). Marker loci DXS106, DXS159, and DXS1 also showed no recombination with AIED. Other positive lod scores at theta max .00 were obtained with markers localized in the XY homologous region in Xq13-q21, but the numbers of informative meioses were small. Multilocus linkage analysis indicated that the most probable location of AIED is in the pericentromeric region between DXS7 and DXS72. These results rule out localizations of AIED more distal on Xp that have been proposed by others. Our data do not exclude the possibility that AIED and incomplete congenital stationary night blindness are caused by mutations in the same gene. This question should be resolved by careful clinical comparison of the disorders and ultimately by the molecular dissection of the genes themselves.
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PMID:Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. 198 61

A reinvestigation of a Danish family with X-linked inherited congenital nystagmus through 6 generations revealed a congenital stationary retinal dysfunction syndrome with characteristics of both incomplete congenital stationary night blindness and Aland Eye Disease. In spite of rather uniform electrophysiological findings in our patients, this retinal disorder which affects both cones and rods demonstrated considerable intrafamilial diversity with respect to visual acuity, nystagmus, refractive state and fundus pigmentation.
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PMID:Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family. 239 3

BTX injection has been used for 11 years by 292 ophthalmologists in 8,854 patients aged three months to 90 years in a variety of eye muscle and eyelid disorders. No systemic toxic reaction has occurred, local complications are few, and visual loss has not occurred in any case. In blepharospasm and hemifacial spasm BTX appears to fill an important need, since no other drug is reliably effective and since surgical interventions have substantial side effects. Strabismus cases with active uveitis, hypotony, previous detachment surgery, active thyroid eye disease, and recent paralytic strabismus are often poor candidates for surgical intervention. Some patients in each of these categories were treated effectively and safely by BTX injection. Surgery is clearly the preferred treatment modality in large angle deviations, in chronic paralytic strabismus, in cases where diplopia for a month or two from injection would incapacitate the patient, in nystagmus, in oblique muscle disorders and A-V patterns, where muscles have been misplaced and where restrictions to alignment have been created by disease or prior surgery. Side by side comparisons of surgery and injection in congenital esotropia and in concomitant strabismus of 50 PD or less should result in further clarification of treatment choices as to effectiveness, side effects and cost. BTX is presently available only to clinical investigators using the drug under research protocols.
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PMID:Botulinum toxin therapy of eye muscle disorders. Safety and effectiveness. American Academy of Ophthalmology. 277 91

Electrophysiological studies showed that a patient with Aland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retino-geniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Aland eye disease is distinct from the Nettleship-Falls type of X-linked ocular albinism. Furthermore, Aland eye disease is different from X-chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of secondary type.
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PMID:Aland eye disease: no albino misrouting. 407 63

The grating acuity of 181 patients from 6 weeks to 18 years of age who had neurological abnormalities and documented developmental delay was assessed using preferential looking (PL) procedures. PL acuities were estimated by a staircase procedure in 79% of all patients (143 of 181) on the first attempt. PL acuities were poorer than normal on the average in all patient groups, including those without ophthalmological disorders. However, PL acuities varied systematically with the severity of the eye disorder in each category, with two exceptions, high refractive error and nystagmus. Interocular acuity differences were sensitive to such asymmetric eye disorders as strabismic amblyopia and unilateral ocular abnormalities and enabled monitoring of occlusion therapy for these conditions. Many patients who were 'visually inattentive' despite the absence of major ophthalmological abnormalities were testable but had very poor acuity. This study evaluates the clinical applicability of PL procedures for routine assessment of visual acuity in pediatric patients with developmental disabilities.
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PMID:Preferential looking acuity of pediatric patients with developmental disabilities. 619 39

Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical ophthalmic examination and electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete congenital stationary night blindness or of Aland island eye disease. Previous studies have mapped both disorders to the proximal short arm of the X chromosome: our molecular studies support this localisation. Incomplete congenital stationary nightblindness and Aland Island eye disease could be considered as a single entity.
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PMID:Aland island eye disease: clinical and electrophysiological studies of a Welsh family. 761 52

A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former.
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PMID:Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. 790 66

Incomplete X-linked congenital stationary night blindness (CSNB) is a recessive, non-progressive eye disorder characterized by abnormal electroretinogram and psychophysical testing and can include impaired night vision, decreased visual acuity, myopia, nystagmus, and strabismus. Including the 20 families previously reported (Bech-Hansen et al. 1998b), we have now analyzed patients from a total of 36 families with incomplete CSNB and identified 20 different mutations in the calcium channel gene CACNA1F. Three of the mutations account for incomplete CSNB in two or more families, and a founder effect is clearly demonstrable for one of these mutations. Of the 20 mutations identified, 14 (70%) are predicted to cause premature protein truncation and six (30%) to cause amino acid substitutions or deletions at conserved positions in the alpha1F protein. In characterizing transcripts of CACNA1F we have identified several splice variants and defined a prototypical sequence based on the location of mutations in splice variants and comparison with the mouse orthologue, Cacnalf.
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PMID:A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 1128 58


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