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)

Two brothers showed severe and persistent hyperchloraemic metabolic acidosis (capillary blood pH 7.07--7.15) due to a low renal bicarbonate threshold at 11 mmol/l. The maximal tubular capacity for bicarbonate reabsorption was reduced to about half the normal. A high dose of acetazolamide (25 mg/kg) lowered the tubular bicarbonate reabsorption substantially, indicating the presence of carbonic anhydrase. Both the glomerular filtration rate, the renal blood flow and the renal concentrating capacity were slightly reduced. The clinical characteristics were: growth retardation, mental retardation, nystagmus, corneal opacities, cataract, glaucoma and enamel defects of the permanent teeth. Serum thyroxine was pathological low without clinical signs of hypothyreosis. The erythrocytes showed an increased osmotic resistance. Autopsy of the younger brother, who died 4 1/2 years old, revealed thyroid and thymus weights of 25% of the normal. The kidney tubular cells were swollen with vacuoles. The glomeruli had a normal appearance.
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PMID:Congenital persistent proximal type renal tubular acidosis in two brothers. 4 68

Numerous systemic drugs produce adverse effects that involve the eye. Pigmentary inclusions of the lids or conjunctivae or both may be caused by a variety of drugs, including amiodarone, chlorpromazine, and gold salts, while conjunctivitis and blepharoconjunctivitis have been associated with isotretinoin, sulfonamides, salicylates, and antineoplastic agents. Dry eye complaints may be caused by antihistamines, beta-receptor blocking agents prescribed for cardiovascular problems, antianxiety agents, and tricyclic antidepressants. Several drugs have been well documented as causes of keratopathies and/or lenticular deposits, including chloroquine and hydroxychloroquine, chlorpromazine, gold salts, systemic corticosteroids, nonsteroidal antiinflammatory drugs, and the antiarrhythmic agent amiodarone. Visual acuity may be decreased by transient changes in refractive error caused by sulfonamides, the antifungal agent metronidazole, thiazide diuretics, and carbonic anhydrase inhibitors. Dilation of the pupil may be caused by anticholinergic drugs, antihistamines, antidepressant agents, and central nervous system stimulants such as cocaine, methylphenidate, and amphetamines. Nystagmus, diplopia, and extraocular muscle palsies have been associated with central nervous system depressants, antihistamines, barbiturates, and elevated blood ethanol concentrations. Intraocular pressure can be elevated in susceptible individuals by long-term use of topical or systemic corticosteroids. Numerous drugs have been associated with retinal toxicity, including chloroquine and hydroxychloroquine, thioridazine, tamoxifen, and talc, which may embolize to the retinal circulation when administered by long-term drug abusers. The antituberculosis agents ethambutol and isoniazid have been implicated as causes of reduced acuity, visual field defects, and disturbances of color vision. Optic neuritis and retrobulbar neuritis may result from the use of chloramphenicol. This paper describes these and other adverse ocular effects that may be encountered when examining patients who are taking systemic drugs.
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PMID:Ocular side effects of selected systemic drugs. 136 80

This report describes the clinical features of a 29 year female presenting with a 3 years history of episodes of cerebellar ataxia, dysarthria and nystagmus lasting 3-5 days, recurring almost every month. Sleep disturbance and buzzing in ears were noted 3-4 days before each episode. No other precipitant factor was present. Family history was negative. She was diagnosed as a case of episodic ataxia type-2 and was successfully treated with acetazolamide, a carbonic anhydrase inhibitor. She was asymptomatic at 2 year followup.
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PMID:Episodic ataxia: a case report and review of literature. 1075 20

Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous intron 2 splice site mutation (the 'Arabic mutation'). All patients had osteopetrosis, renal tubular acidosis, developmental delay, short stature and craniofacial disproportion with large cranial vault and broad forehead. Mental retardation was present in approximately two-thirds and varied from mild to severe. General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retardation and spastic quadriparesis. Globes and retinae were normal, but optic nerve involvement was present in 23/46 eyes and was variable in severity, random in occurrence and statistically correlated with degree of optic canal narrowing. Ocular motility was full except for partial ductional limitations in two individuals. Saccadic abnormalities were present in two, while half of these patients had sensory or accommodative strabismus, and seven had congenital nystagmus. These abnormalities were most commonly associated with afferent disturbances, but a minor brainstem component to this disorder remains possible. All internal auditory canals were normal in size, and no patient had clinically significant hearing loss. Neuroimaging was performed in 18 patients and repeated over as long as 10 years. Brain calcification was generally progressive and followed a distinct distribution, involving predominantly basal ganglia and thalami and grey-white matter junction in frontal regions more than posterior regions. At least one child had no brain calcification at age 9 years, indicating that brain calcification may not always be present in carbonic anhydrase type II deficiency syndrome during childhood. Variability of brain calcification, cognitive disturbance and optic nerve involvement may imply additional genetic or epigenetic influences affecting the course of the disease. However, the overall phenotype of the disorder in this group of patients was somewhat less severe than reported previously, raising the possibility that early treatment of systemic acidosis with bicarbonate may be crucial in the outcome of this uncommon autosomal recessive problem.
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PMID:The neurology of carbonic anhydrase type II deficiency syndrome. 2212 Jan 47