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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diabetes eye complications, and particularly diabetic retinopathy, are the major cause of blindness in the working age groups of industrialised countries. Laser photocoagulation has been proven to reduce blindness due to retinopathy by at least 60% but even more patients would benefit if treatment were delivered at an early enough stage. High risk retinopathy, though, does not cause visual symptoms and when the latter occur it is often too late to reverse them. Hence, a screening programme for diabetic retinopathy should aim at detecting patients at risk when they can still be effectively treated. This can be obtained by regularly checking the patients' eyes. Its target, as defined by the joint World Health Organisation/International Diabetes Federation Saint Vincent Declaration Working Group, is to reduce diabetes-related blindness by one third or more in the next 5 years. The number of persons to be screened is high, 30,000/million total population/year, but available data indicate that this is feasible and that the initial investments in professional and material resources are more than justified by the reduction of preventable blindness and of the financial burdens that go with it. Indeed, prevention of the major cause of blindness in the working age should rate the same priority as other widely deployed programmes, such as those to screen for cancer, neonatal hypothyroidism and phenylketonuria. The concerted action of government health departments, patients' and professional associations will be vital for the successful implementation of this programme. The texts of this document (a protocol for the screening of diabetic retinopathy and cataract), Appendix 1 (data collection card) and Appendix 2 (informative leaflet for the patients) were approved by 57 specialists, representing 30 diabetic and ophthalmic societies from 21 European countries, and endorsed for translation into all European languages and distribution at the appropriate levels.
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PMID:Protocols for screening and treatment of diabetic retinopathy in Europe. 182 Nov 98

The Austrian Screening Program examined during 12 years 1,002.424 newborns and uncovered 23 cases of Galactosemia by Transferase deficiency, 6 by Kinase deficiency as well as 1 case of Phosphoglucomutase deficiency, 1 of porto-caval shunt and 1 congenital liver cirrhosis. Among the 23 Transferase deficiencies 18 took a fulminating course and 8 of these died. Since introduction of exchange transfusion as emergency treatment and acceleration of the screening procedure only 2 among 11 have died. Half of all Galactosemia cases, Transferase and Kinase, show already at the first examination (2. week) a cataract which however is reversible. In contrast to Kinase deficiency all cases of Transferase deficiency exhibit mental retardation if they grow older. Since treatment is early (9, 7 days), easy and the IQ already at 4 years 10 points below that of treated PKU's of same age a congenital brain damage has to be considered. Galactosemia by Transferase deficiency is in Western-Austria significantly more frequent than in Eastern-Austria. 17 boys compare with 6 girls. Among 6 cases of Galactosemia by Kinase deficiency 1 belonged to a Gippsy and 2 to Yugoslavian guest worker families. The 23 cases with Transferase deficiency had 45 siblings among whom 11 also were galactosemic. In 8 sibships the clinical course was of the same typ, but in 1 family one child showed the fulminating the other the subacute course.
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PMID:[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]. 645 54

Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. Albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.
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PMID:Eye findings in patients with phenylketonuria. 688 53

Maternal phenylketonuria (M-PKU) is a syndrome of embryo- and fetopathy observed in the offsprings of mothers with increased blood level of phenylalanine. These women fall into two groups: phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP). The Phe--level safe for the fetus is 4-6 mg%. Typical for M-PKU syndrome is: microcephalia, mental retardation, intrauterine growth retardation, congenital heart diseases and other anomalies like esophageal atresia, meningocoele, Pierre-Robin syndrome, cataract. The only way to prevent this syndrome is Phe--restricted diet that should be initiated before conception. We reviewed updated literature on the pathogenesis of this syndrome, clinic, possibility of prophylaxis and treatment. We present also 5 pregnancies of 3 patients with PKU, treated in National Research Institute of Mother and Child in Warsaw. On that ground we propose the scheme of prevention of maternal PKU syndrome.
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PMID:[Maternal PKU syndrome as an obstetric problem: literature review and own clinical experience]. 1022 66