title: [Estimation of morphology and function of the eye in Usher's syndrome].
abstract: OBJECTIVE
  Retinitis pigmentosa (RP) is a set of heterogenous retinal diseases that affect primarily photoreceptors and retinal pigmented epithelium. The Usher's syndrome (RP associated with hearing impairment or loss), is responsible for about 10-20% of all cases. We investigate macular morphology using spectral domain optical coherence tomography in correlation with visual function.
  
  
  METHODS
  Two patients with Usher syndrome: a 13 years old girl and her 9 years old sister underwent comprehensive ophthalmological examination including: BCVA testing (Snellen charts), biomicroscopy of the anterior and posterior segment of the eye, electroretinography and SD-OCT scans of the macular region.
  
  
  RESULTS
  BCVA was noticeable decreased in both eyes (Vod = 5/16, Vos = 5/16), of 13 years old patient, while it was slightly diminished in her younger sister (Vod = 5/6, Vos = 5/6). In patient with visual deterioration a blue cone deficiency was found. Central foveal thickness (CFT) and foveal outer segment/pigment epithelium thickness (FOSPET) was significantly reduced in 13 years old patient.
  
  
  CONCLUSIONS
  Spectral optical coherence tomography is a useful method to monitor morphological changes of the macula and their progress in patients with retinitis pigmentosa in Usher's syndrome.
authors.affiliation: Klinika Okulistyki Dzieciecej z Ośrodkiem Leczenia Zeza, Uniwersyteckiego Szpitala Klinicznego w Białymstoku.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Mrugacz
authors.forename: Michał
authors.initials: M
authors.lastname: Szumiński
authors.forename: Dorota
authors.initials: D
authors.lastname: Sredzińska-Kita
authors.forename: Alina
authors.initials: A
authors.lastname: Bakunowicz-Łazarczyk
mesh_terms: D000293:Adolescent; D018450:Disease Progression; D005260:Female; D005584:Fovea Centralis / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008266:Macula Lutea / Q000473:pathology / Q000503:physiopathology; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D041623:Tomography, Optical Coherence / Q000379:methods*; D052245:Usher Syndromes / Q000473:pathology* / Q000503:physiopathology*; D014792:Visual Acuity