Naslov
A Rare Type of Ushers Syndrome

Autori
Antonela, Gverović Antunica ; Snježana, Kaštelan ; Kajo, Bućan ; Mira, Ivanković ; Maja, Radman ; Ksenija, Karaman

Izvornik
Acta clinica Croatica (0353-9466) 52. (2013), 4.; 506-514

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Usherovi sindromi ; Retinitis, pigmentozni ; Gluhoća ; Sljepoća ; Prikaz slučaja

Sažetak
A case is presented of a very rare type of Usher’s syndrome detected in a 30-year-old woman in her 28th week of pregnancy. She reported left eye visual impairment with a one-month history. She underwent standard ophthalmologic examination with additional procedures scheduled after childbirth, including fluorescein angiography, visual field (Goldman and Octopus) and electroretinography. Fundus examination revealed pallor of the optic disk, diffuse retinal blood vessel narrowing, no retinal pigmentation, left macular edema, vitreous liquefaction, and posterior vitreous detachment. Goldman perimetry showed narrowing of all isopters to 10o, and Octopus perimetry showed peripheral decrease of retinal sensitivity. Electroretinography confirmed the diagnosis of retinitis pigmentosa sine pigmento. Upon collecting case history records, hearing disorders originating from childhood were discovered. To our knowledge, this type of retinitis in Usher’s syndrome has been reported only once in the available literature.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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