1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Open Access

Genetic testing for Sorsby’s fundus dystrophy

Published Online: 27 Oct 2017
Volume & Issue: Volume 1 (2017) - Issue s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Page range: 102 - 104
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3 gene. Prevalence is, currently unknown. SFD has autosomal dominant inheritance. Clinical diagnosis is based on clinical findings, color vision testing, optical coherence tomography, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

1. Sorsby A, Mason MEJ, Gardner NA. Fundus dystrophy with unusual features. Br J Ophthalmol. 1949 Feb;33(2):67-97. PubMed PMID: 18111349. Pubmed Central PMCID: PMC510908.10.1136/bjo.33.2.6751090818111349Search in Google Scholar

2. Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, et al. Night blindness in Sorsby’s fundus dystrophy reversed by vitamin A. Nat Genet. 1995 Sep;11(1):27-32. PubMed PMID: 7550309.10.1038/ng0995-277550309Open DOISearch in Google Scholar

3. Saihan Z, Li Z, Rice J, Rana NA, Ramsden S, Schlottmann PG, et al. Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. Mol Vis. 2009 Jun 15;15:1218-30. PubMed PMID: 19536307. Pubmed Central PMCID: PMC2697491.Search in Google Scholar

4. Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Arch Ophthalmol. 2000 Jan;118(1):85-92. PubMed PMID: 10636420.10.1001/archopht.118.1.8510636420Search in Google Scholar

5. Stöhr H, Anand-Apte B. A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. Adv Exp Med Biol. 2012;723:261-7. PubMed PMID: 22183341.10.1007/978-1-4614-0631-0_3422183341Search in Google Scholar

6. Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, et al. Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2664-76. PubMed PMID: 25766588.10.1167/iovs.14-1573325766588Search in Google Scholar

7. 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 12; 58 (RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

8. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. 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

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