A Rare Case of Stargardt’s Disease

1. AAO Retina and vitreous Basic and clinical science course 2017-2018, Course Book pp. 180-215.Search in Google Scholar

2. Bowling B (ed.). Kanski’s Clinical ophthalmology. A systematic approach 8th ed. Elsevier Limited, 2016, pp. 640-677.Search in Google Scholar

3. Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol, 2018;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038.30194931Open DOISearch in Google Scholar

4. Rimoin DL., Connor JM, Pyeritz RE еt al. Emery and Rimoin’s Principles and Practice of Medical Genetics. 5th ed. Philadelphia: Churchill Livingstone; 2007, 137, 22-33.Search in Google Scholar

5. Zahid S, Jayasundera T, Rhoades W et al. Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease. Am J Ophthalmol, 2013; 155(3): 465-473.10.1016/j.ajo.2012.09.011449410423219216Search in Google Scholar

6. Eagle RC, Lucier AC, Bernardino VB et al. Natural history of phenotypic changes in Stargardt macular dystrophy. Ophthalmic Genet, 2009; 30(2): 63–68.10.1080/1381681080269555019373676Search in Google Scholar

7. Praidou A, Hagan R, Newman W et al. Early diagnosis of Stargardt disease with multifocal electroretinogram in children. Int. Ophthalmol., 2014; 34(3): 613-621.Search in Google Scholar

8. Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013; 33(1): 5-12.10.1097/IAE.0b013e31827e230623263253Search in Google Scholar

9. Ajoy V, Robson AG, Holder GE. Pathognomonic (Diagnostic) ERGs a review and update. Retina, 2013; 33(1): 5-12.10.1097/IAE.0b013e31827e2306Search in Google Scholar

10. Creel DJ. The Electroretinogram and Electro-oculogram: Clinical Applications, Webvision, the organization of the retina and visual system, http://webvision.med.utah.edu/book/electrophysiology/the-electroretinogram-clinical-pplications/Search in Google Scholar

11. Sears AE, Bernstein PS, Cideciyan AV, et al. Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness. Transl Vis Sci Technol, 2017, 6(5), 6. doi:10.1167/tvst.6.5.6559922828920007Open DOISearch in Google Scholar

12. Salles MV, Motta FL, Martin R, et al. Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. Mol Vis. 2018; 24: 546-559.Search in Google Scholar

13. Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, et al. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes (Basel). 2019, 10(12), 959.Search in Google Scholar

14. Khan M, Cornelis SS, Pozo-Valero MD, et al. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020; 22(7): 1235-1246.10.1038/s41436-020-0787-432307445Search in Google Scholar

15. Maugeri A, van Driel MA, van de Pol DJ, et al. The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet. 1999; 64(4): 1024-1035.10.1086/302323137782610090887Search in Google Scholar

16. Kamakari S, Kokkinou V, Koutsodontis G, et al. Corrigendum to „Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles“. J Ophthalmol. 2018, 3039672.10.1155/2018/3039672631179730647958Search in Google Scholar