Literature DB >> 22944025

Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

Edwin M Stone, Anthony J Aldave, Arlene V Drack, Mathew W Maccumber, Val C Sheffield, Elias Traboulsi, Richard G Weleber.   

Abstract

Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counseling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate the development and delivery of mechanism-specific care. However, like all medical interventions, genetic testing has some specific risks that vary from patient to patient. For example, the results of a genetic test can affect a patient's plans to have children, can create a sense of anxiety or guilt, and can even perturb a patient's relationships with other family members. For these reasons, skilled counseling should be provided to all individuals who undergo genetic testing to maximize the benefits and minimize the risks associated with each test.
Copyright © 2012 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

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Mesh:

Year:  2012        PMID: 22944025     DOI: 10.1016/j.ophtha.2012.05.047

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  36 in total

1.  A risk score for the prediction of advanced age-related macular degeneration: development and validation in 2 prospective cohorts.

Authors:  Chung-Jung Chiu; Paul Mitchell; Ronald Klein; Barbara E Klein; Min-Lee Chang; Gary Gensler; Allen Taylor
Journal:  Ophthalmology       Date:  2014-03-18       Impact factor: 12.079

2.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Authors:  Janey L Wiggs; Anne M Langgurth; Keri F Allen
Journal:  Trans Am Ophthalmol Soc       Date:  2014-07

Review 3.  Highly penetrant alleles in age-related macular degeneration.

Authors:  Anneke I den Hollander; Eiko K de Jong
Journal:  Cold Spring Harb Perspect Med       Date:  2014-11-06       Impact factor: 6.915

4.  Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Authors:  Akiko Maeda; Akiko Yoshida; Kanako Kawai; Yuki Arai; Ryutaro Akiba; Akira Inaba; Seiji Takagi; Ryoji Fujiki; Yasuhiko Hirami; Yasuo Kurimoto; Osamu Ohara; Masayo Takahashi
Journal:  Jpn J Ophthalmol       Date:  2018-05-21       Impact factor: 2.447

Review 5.  Risk factors and biomarkers of age-related macular degeneration.

Authors:  Nathan G Lambert; Hanan ElShelmani; Malkit K Singh; Fiona C Mansergh; Michael A Wride; Maximilian Padilla; David Keegan; Ruth E Hogg; Balamurali K Ambati
Journal:  Prog Retin Eye Res       Date:  2016-05-06       Impact factor: 21.198

6.  Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies.

Authors:  Albert S Li; Donna MacKay; Howard Chen; Rithwick Rajagopal; Rajendra S Apte
Journal:  Ophthalmology       Date:  2019-04-24       Impact factor: 12.079

Review 7.  Ethical issues in neurogenetics.

Authors:  Wendy R Uhlmann; J Scott Roberts
Journal:  Handb Clin Neurol       Date:  2018

8.  Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

Authors:  John H Fingert; Alan L Robin; Todd E Scheetz; Young H Kwon; Jeffrey M Liebmann; Robert Ritch; Wallace L M Alward
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

Review 9.  Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.

Authors:  M Elizabeth Fini; Stephen G Schwartz; Xiaoyi Gao; Shinwu Jeong; Nitin Patel; Tatsuo Itakura; Marianne O Price; Francis W Price; Rohit Varma; W Daniel Stamer
Journal:  Prog Retin Eye Res       Date:  2016-09-22       Impact factor: 21.198

10.  Inclusion of genotype with fundus phenotype improves accuracy of predicting choroidal neovascularization and geographic atrophy.

Authors:  Lorah T Perlee; Aruna T Bansal; Karen Gehrs; Jeffrey S Heier; Karl Csaky; Rando Allikmets; Paul Oeth; Toni Paladino; Daniel H Farkas; P Lyle Rawlings; Gregory S Hageman
Journal:  Ophthalmology       Date:  2013-03-21       Impact factor: 12.079

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