Naslov
Best vitelliform macular dystrophy in a male patient with an adult onset – case report

Autori
Olujić, Marija ; Sablić, Marko ; Bolješić, Marta ; Šimić, Ivana ; Marušić, Romana ; Balog, Slaven ; Kokot, Antonio

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
OSCON Book of Abstracts / Pavlović, Vedrana - Osijek : J.J. STROSSMAYER UNIVERSITY OF OSIJEK FACULTY OF MEDICINE JOSIPA HUTTLERA 4, OSIJEK, 2023, 99-99

ISBN
978-953-7736-64-4

Skup
5 TH INTERNATIONAL TRANSLATIONAL MEDICINE CONGRESS OF STUDENTS AND YOUNG PHYSICIANS

Mjesto i datum
Osijek, Hrvatska, 30.03.2023. - 01.04.2023

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
macula lutea ; optical coherence tomography ; retina ; vitelliform macular dystrophy

Sažetak
Introduction: Best vitelliform macular dystrophy (BVMD) is a slowly progressive, hereditary retinal dystrophy involving the retinal pigment epithelium which leads to a characteristic bilateral yellow “egg-yolk” appearance of the macula, rarely unilateral. Primarily visual acuity is proper ; afterwards decreases centrally with metamorphopsia. Inheritance is usually in autosomal dominant manner ; nevertheless autosomal recessive inheritance may occur. Cause is a fault in a gene called BEST1. Case report: 36-year-old male patient comes for an ophthalmological examination in 2022 since noticing decrease in left eye visual acuity during last year. Visual acuity - right/left eye without correction: 0, 86/0, 15. Macula of the right eye was proper with drusiform changes, while exudation with initial scarring and shortening were noticeable in left eye macula. Optical coherence tomography scans showed an accumulation of amorphous material in macula subretinally with detachment of neurosensory retina, subretinal fluid and formation of epiretinal membrane in the left eye. Fundus autoflorescence of the left eye revealed an autoflorescence blockage centrally in the macula - justified suspicion of BVMD. Patient was released with following recommendations: to perform fluorescein angiography, electrophysiological testing and genetic testing for BEST1-4 mutations. In case of a positive finding - genetic counselling for the patient, related to family planning, is necessary. If complications occur, i.e. choroidal neovascularization or exudative activity, anti-VEGF injections could be applied. Conclusion: Currently no treatment for BVMD exists. Unilateral appearance is extremely rare. Regular examinations are important for monitoring the patient's condition and disease progression, aiming to prevent further deterioration of visual acuity by timely administering appropriate medications.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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