Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Following renal transplantation in nephropathic cystinosis, an extension of retinopathy associated with a variety of subtle functional ocular abnormalities may occur. However, these abnormalities have not (except for photophobia) been of subjective significance to cystinotic patients. Our data, gathered from patients transplanted as long as nine years ago, indicate that cystinotic patients should not have renal transplant withheld because of the fear of subsequent progressive ocular deterioration.
J Pediatr Ophthalmol Strabismus
PMID:Long-term ocular changes in cystinosis: observations in renal transplant recipients. 37 2

A new form of ocular albinism, autosomal recessively inherited ocular albinism (AROA), was studied in seven females and two males from five unrelated Caucasian kindreds. Affected patients have the impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hypoplasia of the fovea, and strabismus that are also found in X-linked ocular albinism (XOA). Unlike XOA, however, this form of ocular albinism is inherited as an autosomal recessive trait, with females affected as severely as males. Obligate heterozygotes of AROA lack the ocular abnormalities that are present in females heterozygous for XOA. Also, skin and hairbulb biopsy specimens do not reveal any abnormalities in patients with AROA, whereas giant pigment granules are found in patients heterozygous and hemizygous for XOA. The recognition of this disorder is imperative for proper diagnosis and responsible genetic counseling.
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PMID:Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. 68 4

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.
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PMID:Vision defects in albinism. 151 58

Monocular eye closure in sunlight is often noted in patients with intermittent exotropia. Neither the reason for eye closure nor its frequency of occurrence in other populations is known. We questioned 147 consecutive nonoperated patients (and/or their parents) ages 1-45 years, 93 with strabismus with onset prior to 7 years of age and 54 without strabismus, for a history of closing one eye in sunlight. Monocular eye closure in sunlight was reported most frequently by patients with intermittent exotropia but was also reported by those with other forms of strabismus as well as by nonstrabismic normals. Cooperative subjects were studied further to determine the cause for eye closure. Each subject was exposed to a source of intense illumination while fixating a target. All who closed one eye under these conditions reported photalgia associated with the high light intensity, most noting less discomfort after closing one eye. None reported diplopia prior to eye closure. Monocular and binocular photophobia thresholds were then measured for each subject. The mean monocular photophobia threshold was significantly higher than the binocular threshold. In addition, binocular photophobia thresholds were significantly lower in those reporting eye closure compared with those who did not. Monocular eye closure in sunlight is a mechanism used to reduce photophobia and is not related to avoidance of diplopia.
J Pediatr Ophthalmol Strabismus
PMID:Monocular eye closure in sunlight. 232 13

Three young children presented with photophobia, epiphora, and torticollis as the initial manifestation of a posterior fossa tumor. In each case there was a delay in treatment due to the presumptive diagnosis of a local ocular inflammatory condition. We recommend that children with unexplained photophobia, epiphora, and torticollis undergo an imaging technique to evaluate the posterior fossa.
J Pediatr Ophthalmol Strabismus
PMID:Photophobia, epiphora, and torticollis: a masquerade syndrome. 239 22

Uniocular eye closure in bright daylight has been considered as evidence of a binocular vision anomaly. Two groups of patients with various binocular vision anomalies were studied and compared. The control group did not manifest uniocular or binocular photophobia while the experimental group admitted frequent eye closure. The variables studied included anisometropia, refractive error, suppression, amblyopia, heterophoria and strabismus. No relations were observed between academic achievement and anomalies of binocular vision utilizing three analytical methods. Monocular photophobia was not associated with anomalous binocular vision.
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PMID:Monocular photophobia. 359 1

An apparently recessively inherited albinism variant characterized by skin tanning, light but not white hair, uniformly pigmented irides varying in colour from hazel to dark brown, slight nystagmus, divergent strabismus, mild hyperkeratosis and only slight or absent photophobia, occurs among the Elema-speaking peoples of the Gulf Province of Papua New Guinea at frequencies indicating that the gene which produces it is polymorphic. It is readily distinguishable from both classical types of albinism, from the "redskin" variant also found in Papua New Guinea, and from the "yellow mutant" albinism of North America. The differences from the African types of "albinoidism" or "partial albinism" are less marked, and it may represent a similar mutation with simply a different distribution of the melanosomes in the two peoples, Allelism, or lack of it, with classical tyrosinase-positive albinism has not been determined.
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PMID:A high-frequency albinism variant on the gulf coast of Papua. 694 71

The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.
J Pediatr Ophthalmol Strabismus
PMID:Leber's congenital amaurosis with associated nephronophthisis. 739 8

Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have identified a region of approximately 110 kb in which the OA1 gene must lie. We have extensively searched for genes in this region using a variety of techniques which included exon amplification, cDNA selection and direct hybridization of cosmid inserts to cDNA libraries. Putative exons identified by exon amplification were used to screen a human retina cDNA library and several cDNA clones corresponding to an approximately 7.5 kb transcript were isolated and characterized. Transcripts of this newly identified gene were found to be abundant in retina and melanoma and could also be detected in brain, placenta, lung, kidney and pancreas. Interestingly, sequence analysis revealed that this new gene encodes a 1616 amino acid protein sharing significant similarities with the Apical Protein from Xenopus laevis (APX) which is implicated in amiloride-sensitive sodium channel activity. The gene, termed APXL (APX-Like), spans approximately 160 kb, contains 10 exons and covers over 70% of the 110 kb critical region for OA1. A truncated pseudogene sharing very high levels of homology with the rat eIF-5 gene, a eukaryotic translation initiation factor, was found to lie in the middle of intron 1. APXL was found deleted in two patients with contiguous gene syndromes including OA1 and in one patient with isolated OA1. Mapping, expression and patient analysis data led us to consider the APXL gene a strong candidate for the OA1 gene. DNA from 57 unrelated patients with OA1 was, therefore, scanned for mutations in the coding region, using both SSCP analysis and direct sequencing. No functionally significant mutation was identified, suggesting that APXL is not directly involved in OA1. Further studies are needed to clarify the physiologic role of this highly conserved gene.
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PMID:Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. 779 90

Among the 185 retinoblastoma patients seen at the Lausanne Retinoblastoma Clinic from 1963-1993, 24 (14%) first presented with another sign than classical leukocoria (60.5%) or strabismus (21.5%). Most of these atypical signs were related to inflammatory complications of unrecognized retinoblastoma; they consisted of low vision (1.5%), hypopyon (2%), ocular redness and pain (1.5%), ocular redness and buphtalmia (1.5%), as well as photophobia and headaches (1.5%). The presence of unexplained chronic ocular signs during childhood should always raise the possibility of an underlying retinal malignancy.
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PMID:[Unusual presentation of retinoblastoma]. 805 60


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