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

A one-year-old White female mongoloid child was seen with typical palpebral fissures, esotropia, myopic astigmatism, and nystagmus. Additional uncommon ocular findings included ganglionic neuroretinal hypoplasia (hypoplasia of the optic nerve) and bilateral congenital impatency of the nasolacrimal duct. An active search for these ocular changes is recommended in cases of Down's syndrome.
 ...
PMID:Uncommon ocular changes in Down's syndrome (mongolism). 14 26

A case of congenital strabismus fixus divergens is described. Other anomalies were vertically oval corneas, high mixed astigmatism, amblyopia, horizontal nystagmus, microcephaly, maxillary hypoplasia, micrognathia, low set large ears, and hyperostosis frontalis interna.
 ...
PMID:Strabismus fixus divergens and associated craniofacial anomalies. 107 37

We have examined the possible presence of color vision anomalies in 9 individuals (17 eyes, 1 blind) with fundus findings suggesting ocular albinism using the Ishihara plates, the 28-hue Roth test, and the Davico anomaloscope. Results indicate that four of these individuals show no sign of the anomalies expected in an albino in either of the two eyes. Of the remaining cases, two are simple deuteranomals in both eyes, according to Pickford's classification criteria. The rest have protanomaly; however, in these the deviation toward red appears in both eyes in only one subject, whereas in the other two subjects it appears in only one eye, their binocular color vision being basically normal. Our study shows that a large proportion of these albinos have photophobia, pendular nystagmus, strabismus, noticeable refractive errors (astigmatism and high myopia), and poor visual acuity [usually less than 6/30 (20/100) with correction]. The measurement of contrast sensitivity function (CSF) indicates that the frequency of 12 cpd cannot be perceived, even in binocular vision.
 ...
PMID:Vision defects in albinism. 151 58

Optic nerve hypoplasia (ONH) is associated with a wide range of neurological and endocrine disorders. A series of 21 patients is reported. This comprised 17 with ONH in association with manifest neurological and endocrine disturbance, 3 who were blind but who were otherwise normal, and 1 with bilateral impaired visual acuity only. All patients underwent neuroradiological and detailed ophthalmic assessment. A wide range of abnormalities was observed. The most common findings were absent septum pellucidum, hydrocephaly, and porencephaly. Evidence of hypothalamic/pituitary hormone deficiency was present in nine patients, six of whom had demonstrable intracranial radiological abnormalities. All patients except one had bilateral optic nerve hypoplasia. Most patients had poor visual acuities and nystagmus. Astigmatism was also common. Two conditions which have not previously been reported in association with optic nerve hypoplasia were found: an intracranial arachnoid cyst and an intracranial epidermoid cyst.
 ...
PMID:Neuroradiological features of patients with optic nerve hypoplasia. 158 71

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.
 ...
PMID:Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. 178 83

Albinism is inherited as autosomal recessive, with one exception: Ocular albinism, which has an x-linked trait. Visual symptoms include photophobia, varying degrees of nystagmus, reduction in visual acuity from 20/30 to 20/400 and varying degrees of moderate to high amounts of corneal astigmatism. Albinism patients respond very well to low vision devices and glare filters.
 ...
PMID:Albinism--a clinician's low vision perspective. 181 96

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.
 ...
PMID:Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. 198 61

The authors assessed relationships between visual acuity and the amplitude, frequency, intensity, and duration of foveation periods in a retrospective study of 32 patients. Twenty-four patients had congenital idiopathic nystagmus, and eight patients had nystagmus and albinism. Visual acuity was determined for Landolt ring optotypes and, as the extrapolated high-frequency cutoff of the contrast sensitivity function, for horizontal and vertical gratings. No significant correlation existed between acuity and any measured eye movement parameter; however, optotype acuity was related to the magnitude of astigmatic refractive correction, both in patients with idiopathic nystagmus and in albinos. In a subgroup of patients with idiopathic nystagmus whose astigmatic refractive error was -1.50 D or less, nystagmus intensity (amplitude x frequency) correlated significantly with acuity for optotypes (r = 0.71), but not for gratings. Although resolution for vertical gratings was correlated with astigmatic refractive correction, the ratio of resolution for gratings parallel and orthogonal to the meridian of nystagmus was not. Thus, the belief that poorer acuity in patients with substantial astigmatism is attributable to an optically induced meridional amblyopia is supported only partly by these results. The authors concluded that among patients with congenital nystagmus, the influence of eye motion on visual acuity is not readily predicted either from the parameters of nystagmus that they evaluated or from the comparison of resolution for horizontal and vertical gratings.
 ...
PMID:Interrelations between measures of visual acuity and parameters of eye movement in congenital nystagmus. 199 94

The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.
 ...
PMID:Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome. 233 Sep 48

A total of 187 medical records of Down syndrome individuals over a 10-year period were reviewed retrospectively for strabismus, myopia, hyperopia, astigmatism, nystagmus, cataract, glaucoma, and other significant eye findings. This study showed that a higher proportion of these individuals than reported in previous studies had strabismus (57%). Refractive errors of myopia (22.5%), hyperopia (20.9%) and astigmatism (22%) were common. The primary care physician needs to be aware of the specific eye problems of Down syndrome individuals so that he or she may initiate or refer the patient for appropriate ophthalmologic care, because most of the eye findings in Down syndrome are treatable. Significant visual loss, a usually avoidable event in Down syndrome, should occur rarely.
 ...
PMID:Down syndrome. Clinical review of ocular features. 252 2


1 2 3 4 5 Next >>