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)

Topical glaucoma medications are widely used for childhood glaucoma, although little is known concerning the use of the newer glaucoma medications in this population. The majority of the references cited were extracted from PubMed. A literature review of all English language reports related to glaucoma medication in the pediatric population since 1980 was performed. Medical therapy of pediatric glaucoma contains four groups of drugs: beta-blockers (timolol and betaxolol), carbonic anhydrase inhibitors (dorzolamide), alpha2-agonists (brimonidine), and prostaglandin analogs (latanoprost). Timolol is the first choice in pediatric glaucoma. In cases with insufficient reduction of the intraocular pressure (IOP), the combination of timolol once a day and dorzolamide twice a day brings about a good control of the IOP. Both medications are effective and well tolerated. The alpha2-agonists have more and potentially serious adverse effects in children and are contraindicated for children younger than 2 years of age. Latanoprost tends to be less effective in lowering IOP in children than in adults. However, no studies are reported where latanoprost is used in monotherapy. Additional study may further delineate this drug's role in treating pediatric glaucoma. The safety profile of latanoprost in children appears excellent.
J Pediatr Ophthalmol Strabismus
PMID:The safety and efficacy of glaucoma medication in the pediatric population. 1921 71

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