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)

Mitochondrial encephalomyopathy involves a disturbance of the mitochondrial respiratory chain, as a result of which the blood lactate level is elevated. In stress situations a lactate acidosis can occur. The disease may be subdivided into three main syndromes: Kearns-Sayre syndrome (KKS), "myoclonus epilepsy with ragged red fibers syndrome" (MERRF), and "mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes syndrome" (MELAS). There are also several intermediate forms. Ophthalmological symptoms are frequent and occasionally have to be treated surgically. A 20-year-old male patient with a mixed form of these syndromes including elements of KSS and MERRF had to undergo cataract extraction. The authors decided to perform the operation under local anesthesia and sedation, with the anesthetist on standby. No problems arose. In all cases where mitochondrial encephalomyopathy is suspected the diagnosis should be confirmed by a muscle biopsy and the risk of cardiac arrest, respiratory insufficiency, and epileptic seizures ruled out prior to surgery. Local anesthesia with sedation appears to be the most favorable form of anesthesia provided the maximum dose is observed and a substance with a high convulsion threshold is chosen. Perioperative monitoring by an anesthetist and temporary provision of a cardiac pacemaker are necessary.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Anesthesia for eye operations in mitochondrial encephalomyelopathy]. 318 52

In the reviewed period, articles on peripheral eye movement disorders covered interesting aspects. Localizing value of associated signs, repetitive presentations of palsies, and classical quotations are stressed for the oculomotor nerve. The superior oblique is correlated to central nervous system disorders when overacting in pediatric patients or when ocular torsion is matched to the perceived vertical tilt. The family "pseudo" brought two of its members: "pseudo" myasthenia and "pseudo" myotonia. Mitochondrial citopathies with ocular manifestations can overlap among the different clinical types, eg, Kearns-Sayre, MELAS (mitochondrial encephalopathy-lactic acidosis and strokelike episodes), MERFF (myoclonic epilepsy and ragged red fibers). The diagnostic value of DNA mutations is emphasized in those syndromes. Imaging of the carotid arteries provides useful hints in cases where the lumen is narrowed due to internal processes or external compression; its interpretation is not only of diagnostic but of prognostic value. Certain otorhinolaryngology surgical procedures can damage the orbital muscles and produce serious inconvenience to the ocular motility. Analyzing the involved structures the therapeutic gesture can be determined. Diplopia after cataract surgery or retinal detachment repair is due to different factors, anesthetics, or implant location and is implied in every case.
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PMID:Peripheral ocular motor disorders. 1015 Aug 25

Mitochondrial diseases are a clinically hetyerogenous group of disorders. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some affect a single organ, but many involve multiple organ systems and often present with prominent neurologic and myopathic features. The eye is frequently affected, along with muscles and brain, but multisystem disease is common. Ophthalmic manifestations include cataract, retinopathy, optic atrophy, cortical visual loss, ptosis and ophthalmoplegia. Kearns-Sayre Syndrome (KSS), Mitochondrial Encephalopathy, Lactic Acidosis Stroke (MELAS), Myoclonic Epilepsy and Ragged Red Fiber myopathy (MERRF) and Lebers Hereditary Optic Neuropathy (LHON) are well known clinical entities that are secondary to mtDNA abnormalities, which has ophthalmic manifestations. Mitochondrial Dysfunction should be considered in the differential diagnosis of progressive multisystem disorder and specifically if there is associated neuro-ophthalmic manifestations, which may be the presenting symptom of these disorders.
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PMID:Mitochondrial disorders with significant ophthalmic manifestations. 2134 43