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A rare type of Usher's syndrome.
Acta Clin Croat. 2013 Dec; 52(4):506-14.AC

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 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.

Authors

Antunica AG
No affiliation info available
Kastelan S
No affiliation info available
Bućan K
No affiliation info available
Ivanković M
No affiliation info available
Radman M
No affiliation info available
Karaman K
No affiliation info available

MeSH

AdultElectroretinographyFemaleFluorescein AngiographyHumansPregnancyPregnancy ComplicationsPrenatal CareRare DiseasesRetinaUsher SyndromesVisual AcuityVisual Fields

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24697003

Citation

Antunica, Antonela Gverović, et al. "A Rare Type of Usher's Syndrome." Acta Clinica Croatica, vol. 52, no. 4, 2013, pp. 506-14.
Antunica AG, Kastelan S, Bućan K, et al. A rare type of Usher's syndrome. Acta Clin Croat. 2013;52(4):506-14.
Antunica, A. G., Kastelan, S., Bućan, K., Ivanković, M., Radman, M., & Karaman, K. (2013). A rare type of Usher's syndrome. Acta Clinica Croatica, 52(4), 506-14.
Antunica AG, et al. A Rare Type of Usher's Syndrome. Acta Clin Croat. 2013;52(4):506-14. PubMed PMID: 24697003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A rare type of Usher's syndrome. AU - Antunica,Antonela Gverović, AU - Kastelan,Snjezana, AU - Bućan,Kajo, AU - Ivanković,Mira, AU - Radman,Maja, AU - Karaman,Ksenija, PY - 2014/4/5/entrez PY - 2014/4/5/pubmed PY - 2014/5/3/medline SP - 506 EP - 14 JF - Acta clinica Croatica JO - Acta Clin Croat VL - 52 IS - 4 N2 - 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. SN - 0353-9466 UR - https://www.unboundmedicine.com/medline/citation/24697003/A_rare_type_of_Usher's_syndrome_ DB - PRIME DP - Unbound Medicine ER -