Naslov
X-linked retinoschisis followed by a chronic cystoid macular oedema in an adolescent boy – case report

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

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, 98-98

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
macular oedema ; optical coherence tomography ; retinoschisis ; X-linked genetic disease

Sažetak
Introduction: X-linked retinoschisis (XLRS) is a genetic condition affecting males with an onset in first decades of life. The main symptom is reduced vision. Cause is a mutation in a gene on the X- chromosome called RS1 that encodes a protein retinoschisin, which develops and maintains the retina. Without it, layers of the retina split, intercell communication is disrupted and vision is lost. Case report: In 2023, a 15-year-old male patient comes for an ophthalmological examination. Patient was diagnosed with bilateral XLRS at the age of six. Visual acuity is stable – right eye/left eye with correction: 0, 9/0, 8. Both eyes have rougher pattern maculae and increased reflex like cellophane maculopathy with associated radial striatal folds. In the right eye, a gigantic rupture of the surface sheet of the retina in the area from 9 to 3 o'clock is observed. Chronic cystoid macular oedema is monitored with optical coherence tomography - an oedematous macula with striae along with a slight tendency of increase in the thickness of the neurosensory retina. Treatment consisted of cyclic topical application of bromfenac sodium and dorzolamide chloride with oral administration of acetazolamid and potassium supplementation. Considering the stable visual acuity, triamcinolone has not yet been applied. Conclusion: XLRS is a lifelong disease - visual acuity deteriorates during the first decades of life but remains relatively stable until the fifth decade. Regular controls are necessary to monitor the visual acuity of the patient and to apply the correct treatment in a timely manner in order to prevent a further decrease in visual acuity.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA