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Ultima descărcare din IBN: 2024-01-25 20:27 |
SM ISO690:2012 BUCINSCAIA, Larisa. Сaz familial de retinoschizis X-lincat cu complicații oculare. 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. 469. |
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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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Background. X-Linked Retinoschisis is a rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes retinoschisin, a protein involved in intercellular adhesion and retinal cellular organization, and is one of the main causes of juvenile macular degeneration among males. Objective of the study. To emphasize the clinical manifestations and particularities of X-linked retinoschisis. Material and Methods. Evaluation of the case of 3 patients, men, first degree relatives (brothers) with progressive decrease of visual functions, who were examined in the Ophthalmology department of the Republican Clinical Hospital "Timofei Moșneagă". Results. In all patients, a progressive decrease of visual acuity occurred at the age of 16-20 years. On objective examination in all cases macular retinoschisis was detected, with other ocular complications: paracentral retinoschisis with vitreo-retinal traction was diagnosed at the the first patient, and barrage laser was performed, peripheral retinoschisis was detected at the second patient, rhegmatogenous retinal detachment with vitreous hemorrhage was detected at the third patient, which was resolved by surgical treatment vitrectomy. Conclusion. Patients with X-linked retinoschisis need to be monitorised for indication of an appropriate treatment and prevention of serious complications, which may lead to significant impairment of visual function. |
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Cuvinte-cheie retinal degeneration, congenital retinoschisis, degenerescență retiniană, retinoschizis congenital |
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