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)

Wilson's disease, or hepatolenticular degeneration, is a rare inherited disorder of copper metabolism which usually affects young people. Excess copper accumulates in the tissues, primarily in the liver, brain, and cornea. This copper deposition results in a wide range of hepatic and neurological symptoms, and may produce psychiatric illness. Hepatic involvement often occurs in childhood, while neurological deficits generally are detected at a later age. The disease is inherited in an autosomal recessive fashion. Ocular findings are of particular importance because the corneal copper deposition, forming the Kayser-Fleischer ring,is the only pathognomonic sign of the disease. The structure of the ring and the presence of copper have been well established. An anterior capsular deposition of copper in the lens results in a characteristic sunflower cataract in some of these patients. Other ocular abnormalities have been described but are much less common. The pathogenesis of the disease and the basic genetic defect remain obscure. It is clear that there is excess copper in the tissues, but the mechanism of its deposition is unknown. It is in some way associated with a failure to synthesize the serum copper protein ceruloplasmin normally. Another theory suggests that an abnormal protein with a high affinity for copper may bind the metal in the tissues. The diagnosis may be suggested by the clinical manifestations and confirmed by the presence of a Kayser-Fleischer ring. In the absence of these findings biochemical determinations are necessary. The most important of these are the serum ceruloplasmin, the urinary copper, and the hepatic copper concentration on biopsy. Treatment consists in the administration of the copper chelating agent, penicillamine, and the avoidance of a high copper intake. This usually results in marked clinical improvement if irreversible tissue damage has not occurred. Maintenance therapy for life is necessary in order to continue the negative copper balance. The detection and prophylactic treatment of asymptomatic individuals with the disease is especially important. Seven cases of Wilson's disease have been presented in order to illustrate many of the features which have been discussed, with emphasis on the ocular findings.
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PMID:Wilson's disease (hepatolenticular degeneration). 102 89

Two sisters, aged 38 and 32, suffering from cerebrotendinous xanthomatosis are described. The most important clinical findings were xanthomas, central nervous affection with motor and mental dysfunction, EEG changes and juvenile cataract. The diagnosis was established by the demonstration of increased amounts of cholestanol in serum. Both sisters had amenorrhea, and their excretion of dehydroepiandrosterone in the urine was increased. In the elder sister, the levels of urinary 17-keto steroids, androsterone and estradiol were also increased. Other unusual features of the disease in the elder sister were hyper-prebeta-lipoproteinemia and serum cholesterol in the higher normal range.
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PMID:Cerebrotendinous xanthomatosis (cholestanolosis). Investigations on two sisters and their family. 113 Jan 72

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto-retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population. Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non-HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an "unspecific neuropathy" (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection. Optic atrophy, tapeto-retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.
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PMID:A study of certain traits accompanying some inherted neurological disorders. 117 17

Extracellular fluid calcium is a tightly controlled variable. Hypoparathyroid state may result in profound calcium imbalance and moderate to severe hypocalcaemia. During 1974-89, 108 cases of hypoparathyroidism (97 post-surgical and 11 idiopathic) were seen. In the post-thyroidectomy group, 83 cases (85%) presented with acute transient hypocalcaemia with spontaneous recovery within 7-10 days. Chronic hypoparathyroidism was seen in 25 cases (14 post-surgical and 11 idiopathic). Convulsions resembling epileptic fits were seen in 9 cases (36%). Pseudopapilloedema was seen in three cases presenting with fits. The administration of phenobarbitone and dilantin aggravated convulsions in 9 patients. The other manifestations were psychiatric illness, cataract and calcification of basal ganglion. Biochemical findings included persistent hypocalcaemia with normal or raised serum phosphorus and lowered daily urinary excretion of calcium. Twenty three of 25 chronic hypoparathyroid cases were treated with vitamin D3 (1-3 mg/day) and calcium supplements (600-1000 mg/day)while 1 alfa-calcidol or calcitriol was used in two patients. Four patients receiving treatment with vitamin D3 developed transient hypercalcaemia with raised plasma levels of 25 hydroxy-vitamin D3. They responded to a reduction in dosage of vitamin D3. One patient was later changed over to 1-alfa-calcidol and another to calcitriol.
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PMID:Calcium imbalance in hypoparathyroidism. 130 51

A 31-year-old man Charles Bonnet syndrome is a condition usually seen in the visually-impaired elderly, causing complex visual hallucinations in the absence of any delirium, dementia or psychiatric illness. We report an elderly man, with blindness in one eye and a cataract in the other, from the Iban tribe, which is indigenous to the island of Borneo. He presented with a three-week history of vivid hallucinations of burglars intruding on his living quarters in the longhouse where he lived.
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PMID:Charles Bonnet syndrome in a Borneo Iban tribesman. 1922 72

The practice of ophthalmology and psychiatry meet over in several aspects of patient diagnosis, management & therapy. The ophthalmologists should be able to recognise signs and symptoms of psychiatric disorder. Non organic disorders could have ophthalmologic manifestations related both the afferent system and motor system related symptoms. Ophthalmologist should be aware of conditions like functional vision loss and visual field loss, voluntary nystagmus, spasm of near reflex, non-organic disturbances of eyelid function, ocular and facial sensation and psychosomatic diseases of eye.Many of the drugs used in psychiatry may cause ophthalmological side effects. These drugs can affect retina, optic nerve, higher visual centre, cornea, lens, ocular motor system and intra ocular pressure. Thalidomide used in 1950s was known to cause congenital ocular defects. Psychological reaction and psychiatric complications are well known after cataract surgery.Other then these problems there are psychiatric disorders which can present ophthalmologic signs and symptoms.
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PMID:Psycho ophthalmology : the interface between psychiatry and ophthalmology. 2145 89

Charles Bonnet syndrome (CBS) is characterized by recurrent or persistent complex visual hallucinations that occur in visually impaired individuals with intact cognition and no evidence of psychiatric illness. Patients usually retain insight into the unreal nature of their hallucinations.3,4 CBS is often misdiagnosed, and predominantly affects elderly patients with vision changes (e.g., age-related macular degeneration, glaucoma, and cataract). While many require only the assurance of the benign nature of the hallucinations, nonpharmacological and pharmacological interventions have been reported to be useful in the treatment of CBS. This case involves an 83-year-old female, with a two-year history of CBS, who presented to the clinic with worsening visual hallucinations over the past few months. She was starting to lose insight into her hallucinations secondary to her new diagnosis of dementia. Several pharmacological agents were explored to determine the most appropriate choice for our patient. Ultimately, this patient was started on donepezil (reported to be successful in a CBS case report), which helped improve her cognitive function. At future follow-up visits, her hallucinations improved and her cognitive function stabilized. Pharmacists should be aware of CBS and its treatment options to properly assist physicians in the medication-selection process to alleviate distress experienced by patients with CBS. In patients who may benefit from pharmacological treatment, physicians should weigh the risks and benefits of the different treatment options. Donepezil can be a favorable option in CBS patients with Alzheimer's type dementia.
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PMID:Charles bonnet syndrome: treating nonpsychiatric hallucinations. 2989 Nov 60

The aim of this study was to use Descemet's Stripping-automated Endothelial Keratoplasty (DSAEK) as a novel treatment to remove thioridazine corneal deposits. A 53-year-old female presented with a 3-month history of visual loss and glare. She had been taking thioridazine (100 mg/day for 1 year) for a psychiatric disorder. Dense yellowish-brown deposits had developed in the posterior stroma. Thioridazine was discontinued, and she was switched to fluoxetine. One year after discontinuation of thioridazine, her symptoms and signs did not resolve. Standard DSAEK was performed on her left eye. Two weeks after DSAEK, an anterior subcapsular cataract was detected in the same eye. Phacoemulsification and intraocular lens implantation were performed after 3 months. The left cornea became completely clear after DSAEK, and the patient's best-corrected visual acuity improved from 20/40 to 20/20 at 1 month after cataract surgery. All-visual symptoms such as glare and halos improved postoperatively. We suggest that DSAEK can be used as a novel treatment to reduce vision problems caused by thioridazine-induced corneal deposits.
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PMID:Descemet's Stripping-automated Endothelial Keratoplasty for symptomatic thioridazine deposits in the cornea. 2901 56

Cataract is a common disease of the eye, and depression is common in patients with cataract. This raises the possibility that depression and the drugs used to treat depression may be risk factors for cataract. In a recent systematic review and meta-analysis of 7 case-control studies with a pooled sample of 447,672 cases and 1,510,391 controls, antidepressant drugs were associated with a very small but statistically significant increase in the risk of cataract; the odds ratios for different classes of antidepressants were in the 1.12-1.19 range. None of the 7 studies in the meta-analysis adjusted their analyses for confounding by indication. Furthermore, the meta-analysis results were characterized by unexplained high heterogeneity, and there was evidence suggestive of publication bias. These data, therefore, do not make a sufficient case for antidepressants being causal for cataract. Rather, the antidepressant data, along with data that associate mood stabilizer exposure with the risk of cataract, suggest that major mental illness and the correlates thereof may be a risk factor for cataract rather than the drugs that are used to treat these disorders. Surprisingly, in similar research designs, antipsychotic drugs were found either to have no effect or to protect against incident cataract. This indicates that the relationship between antidepressant exposure and cataract merits closer investigation, using research designs and analyses that better address confounding by indication. Examples for such research designs and analyses are provided. Until stronger evidence becomes available, a cause for concern remains unestablished.
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PMID:Antidepressants, Mood Stabilizers, Antipsychotics, and the Risk of Cataract. 3075 62