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)

Eighteen patients who, years earlier, had undergone operations for congenital cataracts were discovered to have high intraocular pressures. Several had profound glaucomatous loss of vision. All had deep anterior chambers with flat iris planes and wide open angles. The uveal meshwork was unusually coarse and pigmented in some cases. Nystagmus, aftercataracts, and small pupils made visual field testing and observation of optic discs difficult. Most cases were bilateral, which suggested a hereditary origin; some had a family history of glaucoma. In none did we observe signs of congenital glaucoma or rubella syndrome. The incidence of this disease is not yet known, but it is common enough in our clinic to indicate lifetime surveillance for glaucoma in all patients who undergo congenital cataract surgery.
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PMID:Open-angle glaucoma following surgery for congenital cataracts. 92 76

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

The present paper reports on the case of an 18-year-old man with congenital cataract and microphthalmos of the left eye, divergent strabismus and sursum vergens. Macular degenerative lesions were also present in the right eye, hypoplasia of the iris in both eyes and fixation nystagmus with equal jerks in both directions. The general physical examination showed congenital atrial septal defect. The morbid cardiac and ocular association plead for rubella embryopathy.
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PMID:[Unilateral congenital cataract, iridic hypoplasia and macular degenerative lesions]. 253 74

In a study of congenital cataract in northern India, 76 patients (146 eyes) were evaluated for morphological patterns and etiology. Partial cataracts were found to be three times more common than total cataracts, the lamellar types being the most common among the partial cataracts. Hereditary cataracts had a 19.7% incidence. The majority (46.05%) of cases of congenital cataract were of idiopathic origin. A few cases were associated with metabolic disorders (Marfan's and Marchand's). Strabismus and nystagmus were the most common associated ocular abnormalities (28.94% and 15.79%), and mental retardation was the most commonly associated systemic abnormality. Rubella cataract was seen far less frequently than expected.
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PMID:Congenital cataract: etiology and morphology. 641 11

Septo-optic dysplasia was detected in a 3 month-old boy. Abnormalities consisted of agenesis of septum lucidum as shown by cerebral CT scan and of hypoplasia of optic nerves resulting in pendular nystagmus and visual impairment. A slight visual improvement was observed at 10 months of age. Growth curve was normal and blood GH determination was not performed. Rubella infection had occurred in the 2nd month of pregnancy with rising antibody titers up to the 7 1/2 month.
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PMID:[Septo-optic dysplasia. Apropos of a new case report]. 688 18

Vestibular neuritis is characterized by the sudden onset of nausea, vomiting, and spontaneous horizontal or horizonto-rotatory nystagmus. The etiology of the disease is multifactorial. Mumps, rubella, herpes simplex virus type 1, cytomegalovirus, and Epstein-Barr virus may have a role in the disease. Enteroviruses are among the other rare causes. This report presents a 7-year-old male admitted with nausea, vomiting, rotatory vertigo, horizonto-rotatory nystagmus with positive Romberg's sign and positive head-thrust test. Cranial magnetic resonance imaging and audiometry of the patient were normal. He was diagnosed with vestibular neuritis, and steroid therapy was initiated. At the second month of follow-up, all symptoms had regressed. To the best of our knowledge, this case report describes the first pediatric patient in whom enteroviral ribonucleic acid is documented both in cerebrospinal fluid and in nasopharyngeal material in active disease. This finding supports the possible role of enteroviruses in the etiology of vestibular neuritis.
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PMID:Vestibular neuritis caused by enteroviral infection. 1637 78

Cataract is one of the leading causes of blindness in children. There are very few studies from Nepal on pediatric cataract. The present study is an attempt to get information on clinical profile and etiology of cataract in pediatric age group with an emphasis on preventable factors. A hospital based cross sectional study was carried out in a tertiary referral hospital in Eastern region of Nepal. After obtaining detail history, all children upto 14 years of age with cataract underwent examination under slit lamp or the operating microscope. Cataract is broadly classified into traumatic and non-traumatic groups. TORCH test for rubella, random blood sugar, urine reducing substance, chromosomal analysis were done in children with non-traumatic cataract Out of 172 children 34 (88%) had non-traumatic and 65 (12%) traumatic cataract. The mean age was 5.63 +/- 3.59 years and 7.39 +/- 3.94 years in non-traumatic group and traumatic group respectively. 8 (9.82%) patients with non-traumatic cataract were below the age of one year. Among non-traumatic cataract, 42 (37.50%) had hereditary, 9 (8.03%) had systemic syndromes, 5 (4.46%) had cataract due to maternal infection, 3 (2.67%) had metabolic disorder. While 11 (9.82%) cataract were associated with other ocular dysmorphology, cause was not ascertained in 31 (idiopathic). 11 (9.82%) had complicated cataract. 24.1% (n=27) of children with bilateral cataract had nystagmus at the time of presentation to hospital. In traumatic group, play related injuries were more common than household injuries. A very few children were below one year of age at the time of presentation to hospital. Establishing pediatric vision screening program in the primary health posts, genetic counseling, maternal immunization, health education to school children and use of safety glasses are some important measures that could prevent cataract blindness in our children.
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PMID:Etiology and clinical profile of pediatric cataract in a tertiary care center of Eastern Nepal. 1827 62

The visual tract is prominently involved in schizophrenia, as evidenced by perceptual distortions and a type of nystagmus found in many individuals affected. Genetic explanations for these abnormalities have been suggested. This study proposes an alternate explanation based on infection. Several infectious agents thought to be associated with some cases of schizophrenia are known to cause both infection of the fetus and abnormalities of the eye. Toxoplasma gondii is examined in detail, and rubella, cytomegalovirus, varicella-zoster virus, and herpes simplex virus more briefly. Careful ophthalmic assessments, including funduscopy and direct examination of tissues for infectious agents, will clarify the role of such agents in ocular aspects of schizophrenia.
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PMID:Schizophrenia and Infections: The Eyes Have It. 2750 68

This study aims at identifying ocular findings in infants with microcephaly associated with presumed intrauterine infection by ZIKV. A cross-sectional study included 62 outpatient infants with congenital microcephaly, presumably secondary to maternal ZIKV infection. The included infants had head circumference below -2 standard deviations, with negative maternal serology for toxoplasmosis, rubella, cytomegalovirus, syphilis, and HIV. Assessment of ocular alterations was performed through review of their medical records. Forty two (67.7%) of the children analyzed presented some degree of ocular alteration. Findings in the posterior segment occurred in 29 (46.8%) patients, including atrophy of the retinal pigmentary epithelium in 15 (24.2%) patients, chorioretinal scars in 14 (22.6%) patients, retinal coloboma in 6 (9.7%) patients, and punctate retinal hemorrhage in 1 (1.6%) patient. Other ocular alterations were seen in 15 (24.2%) patients, including pathological strabismus in 11 (17.7%) patients, congenital cataracts in 2 (3.2%) patients, and nystagmus in 2 (3.2%) patients. Functional alterations were seen in four (6.5%) children. More than one change occurred in 11 (17.7%) children, eight of whom had head circumferences below -3 standard deviations. Changes in both the eyes occurred in 22 (35.5%) children, while 20 (32.3%) children had unilateral involvement. Among the 42 children with any ocular alteration, 27 (64.3%) children presented with severe microcephaly (head circumference with standard deviation lower than -3). The majority of children with microcephaly, presumably secondary to maternal ZIKV infection, present ocular alterations, with a higher frequency of involvement in the fundus. Severe ocular alterations are related to severe microcephaly.
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PMID:Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe. 3231 82