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)

Conformational diseases, a general term comprising more than 40 disorders are caused by the accumulation of unfolded or misfolded proteins. Improper protein folding (misfolding) as well as accrual of unfolded proteins can lead to the formation of disordered (amorphous) or ordered (amyloid fibril) aggregates. The gradual accumulation of protein aggregates and the acceleration of their formation by stress explain the characteristic late or episodic onset of the diseases. The best studied in this group are neurodegenerative diseases and amyloidosis accompanied by the deposition of a specific aggregation-prone proteins or protein fragments and formation of insoluble fibrils. Amyloidogenic protein accumulation often occurs in the brain tissues, e.g. in Alzheimer's disease with the deposition of amyloid-beta and Tau, in scrapie and bovine spongiform encephalopathy with the accumulation of prion protein, in Parkinson's disease with the deposition of alpha-synuclein. Other examples of amyloid proteins are transthyretin, immunoglobulin light chain, gelsolin, etc. In addition to the brain, the accumulation of unfolded or misfolded proteins leading to pathology takes place in a wide variety of organs and tissues, including different parts of the eye. The best studied ocular conformational diseases are cataract in the lens and retinitis pigmentosa in the retina, but accumulation of misfolded proteins also occurs in other parts of the eye causing various disorders. Furthermore, ocular manifestation of systemic amyloidosis often causes the deposition of amyloidogenic proteins in different ocular tissues. Here we present the data regarding naturally unfolded and misfolded proteins in eye tissues, their structure-function relationships, and molecular mechanisms underlying their involvement in diseases. We also summarize the etiology of ocular conformational diseases and discuss approaches to their treatment.
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PMID:Conformational diseases: looking into the eyes. 1980 79

Creutzfeldt-Jakob Disease (CJD) is a fatal neurologic disorder caused by an infectious agent called a human prion protein. CJD can be classified as sporadic CJD, familial CJD, variant CJD, and iatrogenic CJD. We report a 64-year-old man diagnosed with CJD three months after cataract surgery. Although sporadic CJD is the most common type, the patient's cataract surgery elicited the possibility of an iatrogenic transmission. It is important to consider whether visual symptoms are a manifestation of sporadic CJD, rather than cataract surgery resulting in iatrogenic CJD. Preceding cataract surgeries have been reported with CJD, but there is no proven causality. This case highlights consideration of sporadic versus iatrogenic cause when seen in association with cataract surgery.
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PMID:A case of Creutzfeldt-Jakob disease following cataract surgery: sporadic versus iatrogenic cause. 2392 50