A rare type of Usher's syndrome.
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 10 degrees, 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.
Antonela Gverović
AG
Antunica
Snjezana
S
Kastelan
Kajo
K
Bućan
Mira
M
Ivanković
Maja
M
Radman
Ksenija
K
Karaman
D000328:Adult; D004596:Electroretinography / Q000379:methods; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011295:Prenatal Care / Q000379:methods; D035583:Rare Diseases; D012160:Retina / Q000473:pathology*; D052245:Usher Syndromes / Q000175:diagnosis*; D014792:Visual Acuity; D014794:Visual Fields