Acta clinica Croatica, Vol. 52. No. 4., 2013.
Other
A Rare Type of Ushers Syndrome
Gverović Antunica Antonela
orcid.org/0000-0002-9613-8033
Kaštelan Snježana
orcid.org/0000-0002-3983-1157
Bućan Kajo
Ivanković Mira
Radman Maja
Karaman Ksenija
Abstract
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.
Keywords
Usher syndromes; Retinitis pigmentosa; Deafness; Blindness; Case report
Hrčak ID:
123070
URI
Publication date:
1.12.2013.
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