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)

Latent/manifest latent nystagmus (LMLN) is a jerky type of nystagmus with the fast phase directed toward the fixating eye. A previous report described that the slow phase shows decreasing-velocity exponentials. However, it is sometimes difficult to differentiate between pure LMLN and latent nystagmus with congenital nystagmus. Furthermore, there has been no detailed report of quantitative analysis of the waveform of LMLN. Therefore, in the present study 18 cases with LMLN were clinically selected and their eye positions and/or strabismus were carefully studied. The eye movement was recorded by a photo-electric device. The patients fixated on a small white target placed at 0, 5, 10, and 15 degrees either from the center toward the right or toward the left in the horizontal plane. Eye movement in each position for at least one minute's duration was recorded on a floppy disc after being digitized by an A/D converter. Then, the time constant of the slow phases were estimated using the repetitive non-linear least square method by a personal computer (NEC, PC 9801). Details of the method have been described previously. The 18 cases were first classified into three groups, based on analysis of the slow phases; 1. decreasing-velocity type, 2. increasing-velocity type, and 3. combination of 1. and 2. In group 1. esotropia or intermittent esophoria was present in all cases (100%) and none of them had stereopsis. In group 2 on the other hand, exophoria or intermittent exotropia was present in 4 (51%) out of 7 cases, and 6 (96%) out of 7 cases had stereopsis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Quantitative analysis of the slow-phase in LMLN]. 208 37

The clinical features of congenital nystagmus (CN) were studied statistically in 106 cases of CN. The point of the nystagmus at which the patients could best see the targets was detected in some patients. The effects of superior colliculectomy on their visual disturbance and the mechanism will be discussed. The study population comprises 106 patients, 79 males and 27 females, aged from one to 64 (mean 19.4 years). Patients with jerky type classified on ENG were found in 53 cases (50%), pendular type in 39 cases (37%), and mixed type in 14 cases (13%). Patients with jerky type showed significantly good visual acuity (mean 0.69 +/- 0.31, p less than 0.005). They showed significant abnormalities during pregnancy and delivery (p less than 0.01) and had a neutral point (p less than 0.01). Patients with pendular type, on the other hand, showed poor visual acuity (mean 0.26 +/- 0.30) and had significant frequency of family history (p less than 0.05), head tremor (p less than 0.01) and strabismus (p less than 0.01). Thirteen cases (12%) had ocular diseases which involved the retina, cornea and optic nerve. Visual function was elaborated on such parameters of ENG as perception, peak variation and plateau time. Perception, which means the ability to detect the dim flashes during the appearance of the nystagmus, was manifested by pushing a button when patients could detect flashes presented at random on the screen. At the turning point from the quick phase to the slow phase, the detection was executed most successfully. It is thought that in CN, a target is usually gazed upon at a point, changing the direction from the quick phase to the slow phase.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A study of visual function in congenital nystagmus--mechanism of visual improvement after stereotactic superior colliculectomy]. 319 Sep 32

In four juvenile patients with unilateral deprivation amblyopia three types of involuntary eye movement were identified by simultaneous binocular infrared reflection oculography (IROG). During apparent steady-point fixation of the dominant eye three cases showed sinusoidal pendular movements (type 1) of the amblyopic eye mainly in a horizontal and slightly in a vertical direction, amplitude (A) 1 to 4 degrees, frequency (F) 0.25-0.4 Hz; only one patient had similar movements with smaller deviations even in the fixing eye. In three cases disturbed fixation of the dominant eye was found, a lateral drift (type 2) up to 3 degrees followed by slow correcting movement (F 0.05-0.1 Hz). At the same time there were disjugate movements of the amblyopic eye, the movements of the two eyes resulting in variations in squint angle of up to 6-7 degrees. These movements of the weaker eyes were clinically observed by Ohm (1958) and were termed pendular flutter to distinguish them from nystagmus. This paper presents the first objectively recorded curves of these movements, and differentiates them according to the various types of movement. Type 3 is a fine jerky or pendular nystagmus (A = max. 1 degree, F = 1.0-2.8 Hz), which was also present in three cases. Two patients had a combination of all three types of motility disturbance. Four cases with unilateral organ lesions, either congenital or acquired in early infancy, were observed and compared. All these cases showed excessive pendular flutter (type 1)--horizontal in the case of the fixing eye and horizontal and vertical in the case of the weaker eye.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Disorders of eye movements in point fixation of the dominant eye in unilateral deprivation amblyopia, squint amblyopia and unilateral organ damage]. 343 Oct 13

Of 40 patients with ketotic hypoglycemia, 15 (nine boys and six girls) developed cataracts. The mean age at onset of the first hypoglycemic attack was 20 months, and the average age at the time the cataracts were discovered was 3 1/4 years. The average birth weight of 14 children was 2060 g. The cataracts were bilateral in all but one case. Seven patients (11 eyes, bilateral in four patients) developed complete cataracts. Despite aphakic correction and occlusion therapy, the major cause of visual loss after cataract surgery was stimulus deprivation amblyopia. Other ocular abnormalities included strabismus and jerky horizontal nystagmus. Neurologic impairment--epilepsy, psychomotor retardation, and/or electroencephalographic abnormalities--was present in over one half of the patients. All children with ketotic hypoglycemia should be referred promptly for an ophthalmic examination so that appropriate therapy can be implemented early.
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PMID:Cataracts and ketotic hypoglycemia. 717 78

Four Chinese infants and children (3 females & 1 male), aged from five months to three years, are diagnosed with Joubert syndrome by clinical and radiological findings. The clinical presentations included panting respiration with apnea in the newborn period (4/4), psychomotor retardation (4/4) and ataxia (2/4). The ocular findings were strabismus (3/4), unilateral ptosis (2/4), jerky eye movement (1/4) and retinal atrophy (1/4). Associated cerebral anomalies were occipital encephalocele (1/4) and hypoplasia of corpus callosum (1/4). All four underwent electroencephalography, abdominal ultrasonography, auditory and visual evoked potential tests; results were all normal. Two patients underwent electroretinogram with normal findings. The brain magnetic resonance imagings of all four patients showed dysgenesis of cerebellar vermis. For children presenting with ataxia and psychomotor retardation, Joubert syndrome is a more obvious diagnostic choice, but it is also important to keep this unusual disorder in mind as a differential diagnosis of neonatal tachypnea with apnea.
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PMID:Joubert syndrome in Chinese infants and children: a report of four cases. 829 32

The Forkhead box G1 (FOXG1) is a transcription factor that is critical for forebrain development, where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, 15 FOXG1 molecular alterations, including only eight point mutations, have been reported. We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. The screening was negative in all males, but two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in two unrelated girls. Both patients showed neurological symptoms from the neonatal period with poor reactivity, hypotonia, and severe microcephaly. During the first year of life, both patients had feeding difficulties and made slow developmental progress. At 5 years old, the girls were significantly neurologically impaired with gross hypotonia, no language, convergent strabismus, and no voluntary hand use. Moreover, they presented a combination of jerky movements, hand-mouthing, and hand-washing stereotypies. Hence, FOXG1 mutation patients demonstrate severe encephalopathy compatible with the congenital variant, as well as additional features such as absent eye contact, inconsolable crying during the perinatal period, and delayed myelination with thin to hypoplastic corpus callosum. Although the overall frequency of mutations in FOXG1 in females with severe mental retardation and microcephaly appears to be low (1.5%), our findings suggest the requirement to investigate both point mutations and gene dosage in the FOXG1 gene in patients with severe encephalopathy with microcephaly and some Rett-like features.
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PMID:Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 1980 73