FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2165511360> ?p ?o ?g. }

• W2165511360 endingPage "645" @default.
• W2165511360 startingPage "639" @default.
• W2165511360 abstract "As new genes and common mutations are identified, DNA testing can be offered. Like clinical testing used in glaucoma, such as IOP, tonography, disc measurements, nerve fiber layer analysis, and the various methods of visual field analysis, well-designed studies are needed to be able to interpret clearly the meaning of abnormal results. To use DNA testing to identify individuals at high risk for glaucoma, it is necessary to have solid evidence with sensitivity and specificity parameters, genotype-phenotype correlations, and information on prevalence and penetrance. These data will have to be replicated in several studies using large, population-matched control groups. Mass screening of glaucoma patients for Myocilin mutations may be worthwhile if 3% to 5% of glaucoma patients will be positive. For comparison, screening all cases of colon cancer for gene mutations involved in hereditary nonpolyposis colorectal cancer is considered feasible and desirable with a yield of only 3%. Recent research has shown the value of early treatment of glaucoma. The cost effectiveness of genetics screening will need to be weighed against the cost of conventional screening and the benefits of early treatment considered. Within glaucoma pedigrees with known mutations, DNA mutation-positive individuals will need more frequent clinical screening, whereas DNA mutation-negative individuals will need less frequent follow-up. It is likely that, for every positive-mutation glaucoma case identified, there will be on average two siblings and two children to test. In addition to the laboratory costs, the costs of counseling, and, in particular, the availability of suitably trained individuals who can correctly interpret these test results, must be considered. The risk and benefits of these measures must be calculated and then balanced with the long-term visual outcome of such a strategy. How could genetic testing alter management in glaucoma? If a family member in a Myocilin pedigree with a severe mutation is negative for the mutation, that individual's risk changes from 50% to that of the general population (ie, -2%), and the frequency of clinical screening can be reduced. There are ethical issues involved in testing, particularly in children, but testing would seem justified in congenital, developmental, and juvenile glaucoma. Issues related to insurance may affect the decision making of some patients. A further consideration, which may regrettably become important in the future, is that of intellectual property and patent issues pertaining to glaucoma gene discovery. In addition to clinical evidence of the value of predictive DNA testing, it is incumbent on those working in the field to evaluate the acceptability of testing to patients and their family members. The authors' experience to date is that predictive DNA testing in glaucoma is well supported in suitable families. As with predictive DNA screening in other ophthalmic conditions, issues relating to insurance, ethics, and confidentiality need to be taken into consideration. Although many of the more recently described genetic associations of POAG require more thorough evaluation, Myocilin gene testing can and should be offered for young-onset severe glaucoma cases with a positive family history." @default.
• W2165511360 created "2016-06-24" @default.
• W2165511360 creator A5012180713 @default.
• W2165511360 creator A5045241030 @default.
• W2165511360 date "2003-12-01" @default.
• W2165511360 modified "2023-10-16" @default.
• W2165511360 title "Predictive DNA testing for glaucoma: reality in 2003" @default.
• W2165511360 cites W137360589 @default.
• W2165511360 cites W1495741587 @default.
• W2165511360 cites W1529788780 @default.
• W2165511360 cites W15453418 @default.
• W2165511360 cites W1590039198 @default.
• W2165511360 cites W182201849 @default.
• W2165511360 cites W182923770 @default.
• W2165511360 cites W1831941353 @default.
• W2165511360 cites W1966028855 @default.
• W2165511360 cites W1966638128 @default.
• W2165511360 cites W1975957761 @default.
• W2165511360 cites W1982532969 @default.
• W2165511360 cites W1998919048 @default.
• W2165511360 cites W2002694297 @default.
• W2165511360 cites W2005578478 @default.
• W2165511360 cites W2007095157 @default.
• W2165511360 cites W2007902324 @default.
• W2165511360 cites W2009664649 @default.
• W2165511360 cites W2011263846 @default.
• W2165511360 cites W2030820499 @default.
• W2165511360 cites W2031264242 @default.
• W2165511360 cites W2034113208 @default.
• W2165511360 cites W2041597883 @default.
• W2165511360 cites W2042916275 @default.
• W2165511360 cites W2046696024 @default.
• W2165511360 cites W2047097816 @default.
• W2165511360 cites W2060819029 @default.
• W2165511360 cites W2072088948 @default.
• W2165511360 cites W2073579811 @default.
• W2165511360 cites W2075373065 @default.
• W2165511360 cites W2086455311 @default.
• W2165511360 cites W2089394013 @default.
• W2165511360 cites W2096371251 @default.
• W2165511360 cites W2100159037 @default.
• W2165511360 cites W2102337184 @default.
• W2165511360 cites W2110590643 @default.
• W2165511360 cites W2124208114 @default.
• W2165511360 cites W2124334570 @default.
• W2165511360 cites W2129779120 @default.
• W2165511360 cites W2134274763 @default.
• W2165511360 cites W2140872673 @default.
• W2165511360 cites W2143882322 @default.
• W2165511360 cites W2145195065 @default.
• W2165511360 cites W2148890166 @default.
• W2165511360 cites W2154040587 @default.
• W2165511360 cites W2154176728 @default.
• W2165511360 cites W2154886355 @default.
• W2165511360 cites W2158105529 @default.
• W2165511360 cites W2160910124 @default.
• W2165511360 cites W2161968833 @default.
• W2165511360 cites W2170087689 @default.
• W2165511360 cites W2172262731 @default.
• W2165511360 cites W2287816174 @default.
• W2165511360 cites W2315775988 @default.
• W2165511360 cites W2399662901 @default.
• W2165511360 cites W2410687921 @default.
• W2165511360 cites W2588288349 @default.
• W2165511360 cites W2598602516 @default.
• W2165511360 cites W2600979965 @default.
• W2165511360 cites W947388247 @default.
• W2165511360 doi "https://doi.org/10.1016/s0896-1549(03)00066-x" @default.
• W2165511360 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14741004" @default.
• W2165511360 hasPublicationYear "2003" @default.
• W2165511360 type Work @default.
• W2165511360 sameAs 2165511360 @default.
• W2165511360 citedByCount "18" @default.
• W2165511360 countsByYear W21655113602012 @default.
• W2165511360 countsByYear W21655113602017 @default.
• W2165511360 countsByYear W21655113602019 @default.
• W2165511360 countsByYear W21655113602021 @default.
• W2165511360 crossrefType "journal-article" @default.
• W2165511360 hasAuthorship W2165511360A5012180713 @default.
• W2165511360 hasAuthorship W2165511360A5045241030 @default.
• W2165511360 hasConcept C104317684 @default.
• W2165511360 hasConcept C118487528 @default.
• W2165511360 hasConcept C121608353 @default.
• W2165511360 hasConcept C126322002 @default.
• W2165511360 hasConcept C127716648 @default.
• W2165511360 hasConcept C200544954 @default.
• W2165511360 hasConcept C22593422 @default.
• W2165511360 hasConcept C2778527774 @default.
• W2165511360 hasConcept C2780673598 @default.
• W2165511360 hasConcept C2908647359 @default.
• W2165511360 hasConcept C501734568 @default.
• W2165511360 hasConcept C526805850 @default.
• W2165511360 hasConcept C54355233 @default.
• W2165511360 hasConcept C60644358 @default.
• W2165511360 hasConcept C71924100 @default.
• W2165511360 hasConcept C86803240 @default.
• W2165511360 hasConcept C99454951 @default.
• W2165511360 hasConceptScore W2165511360C104317684 @default.

• next