2019, Number 2
<< Back Next >>
Correo Científico Médico 2019; 23 (2)
Stargardt´s disease. A case report
Hernández PA, Reyes ME, Escalona AJR, Hernández PEM, González EY
Language: Spanish
References: 6
Page:
PDF size: 644.29 Kb.
ABSTRACT
Stargardt's disease and the flavimaculatus fund are variants of the same nosological entity. They constitute the most frequent juvenile macular dystrophy and common cause of central vision loss in adults under 50 years of age. A 35-year-old female patient who was diagnosed with Stargardt's disease currently suffers from low visual capacity. We present findings of a localized macular lesion in the foveal region of the bronzed and pale aspect in the temporal region of the optic papilla. At the histological level, a cluster of lipofuscin-like material is produced in the cells of the retinal pigment epithelium by the mutation of the ABCA4 gene. The incidence of Stargardt disease is around one person affected by 10,000 people and usually affects adolescents and young adults under 20 years old.
REFERENCES
Bardak H, Gunay M, Erçalık Y, Bardak Y, Ozbas H, Bagci O. Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. Genet Mol Res. 2016[citado 9 nov 2017]; 15(4).Disponible en: https://www.geneticsmr.com/articles/8082
Tanna P, Strauss RW, Fujinami K,Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017 [citado 9 nov 2017];101(1): 25-30. Disponible desde: https://bjo.bmj.com/content/bjophthalmol/101/1/25.full.pdf
Lin B, Cai XB, Zheng ZL, Huang XF, Liu XL, Qu J, et al. Clinical and genetic analyses reveal novel pathogenic A BCA4 mutations in Stargardt disease families . Sci Rep. 2016 [citado 9 nov 2017]; 6: 35414. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064356
Agarwal A. Heredodystrophic disorders affecting the pigment epithelium and retina. En: Gass’ atlas of macular diseases. 5th ed. Philadelphia: Elsevier Saunders; 2012[ 11 abr 2019].239-436. Disponible en: https://www.clinicalkey.es/#!/content/book/3-s2.0-B9781437715804000057
Han Z, Conley SM, Makkia RS, Cooper MJ, Naash MI. DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice. J Clin Invest. 2012 [citado 9 nov 2017]; 122(9). Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428101
McBain VA, Townend J, Lois N. Progression of retinal pigment epithelial atrophy in Stargardt disease. Am J Ophthalmol. 2012 [citado 9 nov 2017]; 154(1):146-154.Disponible en: http://www.sciencedirect.com/science/article/pii/S0002939412000700.