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SM ISO690:2012 CUŞNIR, Valeriu, DUMBRĂVEANU, Lilia, BOBESCU, Doina. Aspecte clinice, diagnostice și de tratament în maladia stargardt. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 474. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 474-474 | ||||||
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Background. Stargardt disease is the commonest inherited macular dystrophy, caused by the ABCA4 gene mutation, with an incidence of 1: 8,000-10,000 and same frequency in both sexes. It starts in childhood or adolescence, rarely in adulthood, progressively affecting central vision and adaptation to darkness. Objective of the study. Assessment of clinical aspects of Stargardt disease, its diagnosis and treatment. Material and Methods. We report 8 clinical cases of patients with Stargardt disease from our clinic. They were investigated by the following methods: determination of visual acuity with and without correction, biomicroscopy, tonometry, ophthalmoscopy, perimetry, ocular coherence tomography and fluorescent angiography. Results. Complaints: central scotomas, dyschromatopsia, maladaptation to darkness. In 6 patients the disease started before 18 y.o., 1 at 20, 1 at 38 y.o.. 5 patients had relatives with macular dystrophy. Perimetry: central scotomas, in 2 patients - narrowing of VF. OCT: reduction of foveal thickness and a disruption of subfoveal outer retinal layers. FA: dark choroids, at the level of flecks - hypofluorescent spots, at the level of atrophied RPE - hyperfluorescent areas. There is no specific treatment, only low vision devices, sun protection, avoidance of vitamin A supplements. For research are gene therapy and stem cell transplantation - RPE cells. Conclusion. (1) Early diagnosis of Stargardt disease allows to take the necessary measures to slow the progression of the disease and improve the patient's quality of life. (2) If the disease starts later, the visual prognosis is better. |
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Cuvinte-cheie Stargardt disease, macular dystrophy, ABCA4 gene, maladia Stargardt, distrofie maculară, gena ABCA4 |
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