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 1-year-old girl had esotropia and bilateral mottled retina. At age 2 years, she had night blindness. At age 12 years, she had poor visual acuity, nystagmus, mottled retina, and unrecordable electroretinograms OU and a whitish swollen optic disc with retinal folds OD. We believe that this patient had an uncommon association of disc edema with juvenile retinitis pigmentosa.
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PMID:Disc edema in juvenile retinitis pigmentosa. 195 40

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

Two brothers, 31 and 25 years of age, with distal hereditary motor neuropathy (distal HMN) and choroideremia are reported. Their parents were second cousins. During the first decade, their visual acuity gradually diminished with night blindness, accompanied by weakness of the legs. From the third decade, they noticed weakness of the hands. The neurological signs of both cases could be summarized as follows: bilateral pes cavus, Charcot-Marie-Tooth type distal atrophy and weakness of the four limbs, no sensory deficit, hyperreflexia in the upper limbs and knees, absent ankle jerks and plantar reflexes, and severe visual impairment due to choroideremia. In addition to these signs, the younger patient showed nystagmus and limb kinetic ataxia suggesting cerebellar involvement. Muscle biopsies and EMG studies revealed chronic neurogenic changes. MCV's in the median nerves were normal, but the extensor digitorum brevis muscles were totally denervated. SCV's, the amplitude of sensory action potentials and sural nerve biopsies were normal. In both patients, elevated CSF protein without pleocytosis and high level of serum IgA & E were demonstrated. Associations of choroideremia and abnormal laboratory findings as noted in our cases have not been so far reported in distal HMN, but we suppose these disorders may be genetically related.
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PMID:[Two siblings of distal hereditary motor neuropathy with choroideremia]. 226 99

X-linked congenital stationary night blindness (CSNB) is a well-documented disorder in which the most striking clinical features are impaired night vision, nystagmus and myopia. Recent reports have highlighted differing features between families, and it has been suggested that these discrepancies may be the result of two loci on the X chromosome or of two mutant alleles. We outline the clinical and visual function findings in 42 affected members from 10 families and 1 adopted person. There was a relative unawareness of the disorder in clinical practice. At least one of the main features of CSNB was absent in 75% of the patients. The visual function values varied widely, both between and within families (visual acuity 20/30 to 20/400, refractive error +1.50 to -22.50 and rod segment elevation 1.5 to 3.0 log units). The findings are consistent with a single allele exhibiting a wide variation in clinical expression.
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PMID:Variable expressivity in X-linked congenital stationary night blindness. 232 35

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

The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.
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PMID:Leber's congenital amaurosis associated with high hyperopia in four sisters. 266 98

Seven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling. Two patients showed pupillary constriction to darkness which is a sign of retinal disease in young patients.
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PMID:X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. 325 95

Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.
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PMID:Congenital stationary night blindness presenting as Leber's congenital amaurosis. 349 59

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

A family with X-linked recessive congenital stationary night blindness, myopia, and tilted discs has been identified. All affected members have decreased vision, nystagmus, strabismus with decreased binocular function, visual field defects, abnormal fundus appearance with typical fluorescein angiographic findings of tilted disc syndrome, abnormal electroretinograms, and abnormal visual evoked responses to patterned stimuli. Similar clinical evaluation of an obligate carrier revealed no ocular abnormalities.
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PMID:X-linked recessive congenital stationary night blindness, myopia, and tilted discs. 697 43


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