Genetic testing for Mendelian myopia

1. Bourne RR, Stevens GA, White RA, Smith JL, Flaxman SR, Price H, et al. Causes of vision loss worldwide, 1990-2010: a systematic analysis. Lancet Glob Health. 2013 Dec;1(6):e339-49. PubMed PMID: 25104599. Epub 2013/11/11.10.1016/S2214-109X(13)70113-XSearch in Google Scholar

2. Young TL. Molecular genetics of human myopia: an update. Optom Vis Sci. 2009 Jan;86(1):E8-E22. PubMed PMID: 19104467; PubMed Central PMCID: PMC3718050.10.1097/OPX.0b013e3181940655371805019104467Search in Google Scholar

3. Holden BA, Wilson DA, Jong M, Sankaridurg P, Fricke TR, et al. Myopia: a growing global problem with sight-threatening complications. Community Eye Health. 2015;28(90):35. PubMed PMID: 26692649; PubMed Central PMCID: PMC4675264.Search in Google Scholar

4. Yap M, Wu M, Liu ZM, Lee FL, Wang SH. Role of heredity in the genesis of myopia. Ophthalmic Physiol Opt. 1993 Jul;13(3):316-9. PubMed PMID: 8265177.10.1111/j.1475-1313.1993.tb00479.x8265177Search in Google Scholar

5. Sun W, Huang L, Xu Y, Xiao X, Li S, Jia X, et al. Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One- Fourth Show Potential Pathogenic Mutations in RetNet Genes. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8365-72. PubMed PMID: 26747767.10.1167/iovs.15-1755526747767Search in Google Scholar

6. Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. Am J Hum Genet. 2011 Sep 9;89(3):438-45. PubMed PMID: 21885030; PubMed Central PMCID: PMC3169819. Epub 2011/09/01.Search in Google Scholar

7. Jiang D, Li J, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. Invest Ophthalmol Vis Sci. 2014 Dec 18;56(1):339-45. PubMed PMID: 25525168.10.1167/iovs.14-1485025525168Search in Google Scholar

8. Feng CY, Huang XQ, Cheng XW, Wu RH, Lu F, Jin ZB. Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients. Sci Rep. 2017 Apr 25;7(1):1120. PubMed PMID: 28442722; PubMed Central PMCID: PMC5430800.10.1038/s41598-017-01285-3543080028442722Search in Google Scholar

9. Kantarci S, Donnai D, Noonan KM, Pober BR. Donnai-Barrow Syndrome. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al, editors. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

10. Ordonez J, Tekin M. Deafness and Myopia Syndrome. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al, editors. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

11. Robin NH, Moran RT, Ala-Kokko L. Stickler Syndrome. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al, editors. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

12. Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, et al. Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. Eur J Med Genet. 2015 May;58(5):293-9. PubMed PMID: 25682901. Epub 2015/02/13.10.1016/j.ejmg.2014.12.00825682901Search in Google Scholar

13. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009 Jun;58(RR-6):1-37; PubMed PMID: 19521335.Search in Google Scholar

14. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025Search in Google Scholar