Usher Syndrome: Case Reports of Two Siblings.
Background: Usher syndrome is a rare autosomal recessive disorder characterized by congenital sensory neural deafness and progressive visual loss secondary to retinitis pigmentosa. There are three different types of Usher syndrome. Retinitis pigmentosa is the main ophthalmic manifestation shared by...
| Publicado en: | Optometry & Visual Performance Vol. 3; no. 3; pp. 174 - 178 |
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| Autores principales: | , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
Optometric Extension Program
Jun2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=103216574&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 103216574 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23253479 HOOW jtl: Optometry & Visual Performance issn: 23253479 maglogo: N pubinfo: dt: Jun2015 vid: 3 iid: 3 pid: 46881 pub: Optometric Extension Program place: Lutherville Timonium, Maryland artinfo: ui: 103216574 103216574 103216574 103216574 ppf: 174 ppct: 4 formats: tig: atl: Usher Syndrome: Case Reports of Two Siblings. aug: au: Prasad Sah, Raman Gautam, Pragati Baba Shrestha, Jyoti Raj Joshi, Mahesh affil: B.P. Koirala Lions Centre for Ophthalmic Studies, Maharajgunj, Kathmandu, Nepal sug: subj: Usher's Syndrome Evoked Potentials, Visual Visual Acuity Eye Manifestations Tomography, Optical Coherence Retinitis Pigmentosa Siblings ab: Background: Usher syndrome is a rare autosomal recessive disorder characterized by congenital sensory neural deafness and progressive visual loss secondary to retinitis pigmentosa. There are three different types of Usher syndrome. Retinitis pigmentosa is the main ophthalmic manifestation shared by all three. Differences in auditory and vestibular function are the distinguishing feature. Case Reports: Two brothers, 13 and 16 years of age, presented with chief complaints of progressive diminution of vision in both eyes, especially at night. They underwent a detailed evaluation which included dilated fundus examination, cycloplegic refraction, multifocal electroretinogram (mfERG), optical coherence tomography, visual evoked potential, and Goldmann perimetry. The evaluation revealed best corrected visual acuity of 6/12 and 6/9 in each case despite the presence of bony spicules and abolished mfERG amplitudes. The clinical findings supported the diagnosis of Usher syndrome Type I. Discussion: Early detection and intervention will help preserve residual vision in these cases. pubtype: Academic Journal doctype: case study pictorial tables/charts Journal Article ougenre: Unknown language: English refInfo: holdings: @attributes: islocal: N |
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