Genetic testing for Stargardt macular dystrophy

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Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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  • 1. Rotenstreich Y Fishman GA Anderson RJ. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology. 2003 Jun;110(6):1151-8. PubMed PMID: 12799240.

  • 2. Passerini I Sodi A Giambene B Mariottini A Menchini U Torricelli F. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond). 2010 Jan;24(1):158-64. doi:

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  • 3. Oldani M Marchi S Giani A Cecchin S Rigoni E Persi A Podavini D et al. Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. Genet Mol Res. 2012 Dec 17;11(4):4342-50. PubMed PMID: 23096905.

  • 4. 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.

  • 5. 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.

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