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A Rare Type of Ushers Syndrome

Gverović Antunica Antonela orcid id orcid.org/0000-0002-9613-8033
Kaštelan Snježana orcid id orcid.org/0000-0002-3983-1157
Bućan Kajo
Ivanković Mira
Radman Maja
Karaman Ksenija


Puni tekst: engleski pdf 1.368 Kb

str. 506-514

preuzimanja: 1.054

citiraj


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.

Ključne riječi

Usher syndromes; Retinitis pigmentosa; Deafness; Blindness; Case report

Hrčak ID:

123070

URI

https://hrcak.srce.hr/123070

Datum izdavanja:

1.12.2013.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.589 *