Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corneal opacities and retinal hypoplasia. Aniridia may appear as an isolated disorder, most often familial with autosomal dominance or sporadically in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is already possible, counselling affected families should be preceded by karyotype studies and linkage analysis in familial cases of isolated aniridia. In sporadic cases of isolated aniridia or WAGR syndrome, we suggest that PAX6 mutation analysis be employed.
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PMID:Aniridia: recent achievements in paediatric practice. 852 75

The analysis of twenty-one observations with Peter Syndrome, shows that the disease was established by a disorder in the development of the mesoderm who gives birth at the posterior, stratum of cornea, iris stroma and angle of the posterior chamber. The disease was associated with cataract (nine cases), strabismus (seven cases), congenital glaucoma (five cases), microophthalmia (three cases), microcornea (four cases), remainders of the pupillary membrane (one case), vitreous opacities (one case), facial malformations (one case), congenital dacryocystitis (one case), nystagmus (four cases). The presence at the same patient of the posterior keratoconus or staphiloma of cornea at one eye and Peter syndromme at the other eye, is possible to say that these diseases are evolutionary stages by one and the same mesodermal disgenesia.
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PMID:[Ocular manifestations in Peters' syndrome]. 871 80

Fifty-five patients with Down's syndrome were examined to evaluate the characteristics and frequency of ocular findings. Of these patients, 29 (52.7%) were hypermetropes, 7 (12.7%) were emmetropes, and 7 (12.7%) were myopes; astigmatism of more than 3.00 diopters was present in 7(12.7%) patients. Strabismus was observed in 12 (21.8%) patients. All but one of these 12 patients also had esotropia. Congenital nasolacrimal duct obstruction was present in 12 subjects (21.8%). Blepharitis was found in 19 (34.5%) cases. Nystagmus occurred in 7 (12.7%) patients. Brushfield spots were detected in only 20 (36.3%) of the patients and were more common in light-colored irides. Lens opacities were diagnosed in 11 (20%) patients, and two underwent successful cataract surgery. On fundus examination, an increased number of retinal vessels crossing the optic nerve head was detected in 21 (38.1%) cases. One of the patients had a retinal detachment. Significant but correctable ocular problems are present in patients with Down's syndrome and may interfere with the quality of life of the patient and with binocular vision. Surgical intervention may be needed for strabismus and for cataracts.
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PMID:Ocular findings in 55 patients with Down's syndrome. 874 Jun 93

Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strabismus, cataract, nystagmus and corneal opacities are associated ocular features. At a genetic level, a defect occurs in the pathway for the repair of transcriptionally active DNA, and the most common form of Cockayne's is associated with mutations in the human repair gene ERCC6. These patients pose a difficult management problem. A significant proportion will require cataract extraction at an early age, which may present technical difficulties due to enophthalmos, which is a constant finding, poor pupillary dilation and growth retardation. Also, the fitting and assessment of aphakic contact lenses during the post-operative period requires great skill. General anaesthesia in these patients may be hazardous. In particular, difficulty with endotracheal intubation should be anticipated. Two patients with Cockayne's syndrome requiring bilateral cataract extraction in early infancy are presented. The problems associated with surgery, anaesthesia and subsequent follow-up in these mentally retarded infants are discussed.
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PMID:Ophthalmic management of Cockayne's syndrome. 876 5

We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1;16)(q23;q13) in all cells transmitted from a phenotypically normal mother with a similar balanced translocation mosaicism. We suggest that genes for COFS syndrome could be located on chromosome 1q23 or 16q13. We recommend chromosomal analysis and DNA studies in cases with COFS manifestations.
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PMID:COFS syndrome with familial 1;16 translocation. 900 8

We observed the anterior segment of eyes in one case of sclerocornea and one case of microcornea using an ultrasound biomicroscope. The sclerocornea was the peripheral type. The contrast in the image of ultrasound biomicroscopy changes from low to high density in proportion to the optical opacity at the peripheral portion of the cornea. There was no abnormality in the anatomical figures of the anterior chamber angle in ultrasound biomicroscopic findings, which gave significant information in the cataract surgery. The patient with microcornea had horizontal nystagmus, partial coloboma of the iris, choroidal coloboma, and cataract in both eyes. We observed the iris tissue in all the meridians in the ultrasound biomicroscopic pictures. Ultrasound biomicroscopy is a promising procedure for examining the anterior segment of eyes with corneal opacity.
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PMID:[Ultrasound biomicroscopic observation of the anterior eye segment in a sclerocornea and a microcornea]. 902 10

The purpose of this study was to estimate the response on vestibular caloric and optokinetic stimulation in patients with congenital nystagmus and serious congenital anomalies of visual system. 58 patients, aged 11-20 (21 female, 37 male) underwent this stimulation with ENG registration. The patients had visual acuity from 0.04 to 0.4, caused by visual system diseases e.g. congenital cataract, optic atrophy, hypoplasia maculae, high refractive error, albinism ect. The correct response was observed with 15.5% of the patients on vestibular caloric stimulation. There was no statistically significant relationship between visual acuity or visual system disease and the correct response. 28% of the patients responded correctly on optokinetic stimulation. There was statistically significant relationship between visual system anomaly and correct OKN: 80% of this reaction was in the group of optic atrophy, 54% in the group of high refractive error. Statistically significant relationship was no observed between visual acuiy and correct OKN. High level of the incorrect response on the caloric and optokinetic stimulation in the persons with congenital nystagmus and congenital disorder of visual system limits using of this tests for diagnostic purpose.
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PMID:[Congenital nystagmus with sensory disorder: reaction to the caloric and optokinetic stimulation]. 951 20

A family with choroidal coloboma is reported. A 43-year-old Japanese woman with choroidal coloboma including the optic disk and extending to the inferior half of the fundus in both eyes had horizontal nystagmus, microcornea and mild cortical cataract in both eyes. Her 40-year-old younger sister had choroidal colobomas in both eyes and also a horizontal nystagmus, microcornea in both eyes and a mature cataract in the left eye. They had no systemic abnormalities. Their parents and 2 younger sisters showed neither ocular nor systemic abnormalities. Choroidal coloboma with iris coloboma has been reported frequently, but familial choroidal coloboma without involvement of the iris and with no systemic abnormalities is rare.
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PMID:Choroidal coloboma in two members of a family. 956 1

Coloured filters are used to protect the lens, retina and other ocular tissues against the hazard of light damage and to improve the quality of vision mainly in cases of ocular media opacities. Four types of yellow, amber and orange filters have been designed as tinted glasses, shields and colour covering of spectacles. They were tested on 15 adult patients with partial cataract and on 80 children with congenital pathology (i.e. macular hypoplasia, albinism, aphakia after congenital cataract). The majority of the children had nystagmus. The filters with particular spectral characteristics provide reduction of light intensity in the light-damaging range by at least a factor of five. Optimal filters were selected by examination of visual acuity, contrast frequency sensitivity, glare sensitivity and subjective selection by the patients. The effects of filters were: 11-43% increase in corrected visual acuity, 27-34% increase in contrast sensitivity function (CSF) for all frequencies and a marked reduction in glare sensitivity. All patients reported subjective improvement including reduction of photophobia, eye-strain and eye discomfort. It is concluded that coloured filters are able to contribute substantially to rehabilitation of low-vision patients.
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PMID:Spectral filters in low-vision correction. 1096 99

The report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. Karyotypes were normal. Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as ataxia-telangiectasia, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from cataract or vitreous hemorrhage. The similar morphologic and clinical features of both patients raise the possibility that they have an identical syndrome.
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PMID:Periodic alternating nystagmus in two children with a similar, unusual phenotype. 1111 1


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