Ítem
Solo Metadatos

X-linked retinoschisis in three females from the same family: A phenotype-genotype correlation

Mostrar el registro sencillo de la publicación
dc.creatorRodríguez F.J.spa
dc.creatorRodríguez A.spa
dc.creatorMendoza-Londoño R.spa
dc.creatorTamayo M.L.spa
dc.date.accessioned2020-05-25T23:58:48Z
dc.date.available2020-05-25T23:58:48Z
dc.date.created2005spa
dc.description.abstractPurpose: To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males. Methods: Retrospective review of charts for females from a family with XLRS who underwent complete ophthalmologic examinations, ancillary tests, clinical genetic evaluation, and molecular studies. Results: Three female patients (6 eyes) with clinical findings of XLRS were identified. The patients' ages ranged from 10 to 37 years. Initial visual acuity was equal to or worse than 20/50 in 4 eyes (66%) of 2 patients. Four eyes (66%) were hyperopic. Intraocular pressure was normal in all eyes. Three eyes (50%) had cataracts, and vitreous veils were present in 3 (50%). The optic disk was pale in 6 eyes (100%). Foveal schisis was present in 6 eyes (100%). Peripheral retinal schisis was present in five eyes. A silvery gloss or tapetal-like retinal reflex or sheen was observed in 6 eyes (100%), and dendritic lines were found in 2 (33%). One eye had a retinal break, and one had a retinal detachment. Two eyes underwent cataract extraction; one patient underwent bilateral cryotherapy, one, laser treatment, and one, scleral buckling. Final visual acuity was 20/50 to 20/100 in 2 eyes and 20/200 to 20/400 in 4. Follow-up ranged from 7 to 22 years. Molecular analysis showed that all three female patients were homozygous for the allele 639delG of (on) the XRLS1 gene. Conclusions: Compared with their affected male relatives, three females from a family with XLRS had similar ocular findings and a more severe course of disease. These findings are explained by the fact that these patients were homozygous for a mutation in the XLRS1 gene.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1097/00006982-200501000-00010
dc.identifier.issn15392864
dc.identifier.issn0275004X
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22931
dc.language.isoengspa
dc.relation.citationEndPage74
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage69
dc.relation.citationTitleRetina
dc.relation.citationVolumeVol. 25
dc.relation.ispartofRetina, ISSN:15392864, 0275004X, Vol.25, No.1 (2005); pp. 69-74spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-13844264180&doi=10.1097%2f00006982-200501000-00010&partnerID=40&md5=c2d6e586cb8ec97a59920884e92afb3fspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAdolescentspa
dc.subject.keywordpreschooleng
dc.subject.keywordChildspa
dc.subject.keywordClinical articlespa
dc.subject.keywordDendritic cellspa
dc.subject.keywordFemalespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHomozygosityspa
dc.subject.keywordHumanspa
dc.subject.keywordIntraocular pressurespa
dc.subject.keywordMalespa
dc.subject.keywordMultigene familyspa
dc.subject.keywordRetina macula degenerationspa
dc.subject.keywordRetinoschisisspa
dc.subject.keywordRetrospective studyspa
dc.subject.keywordReviewspa
dc.subject.keywordSclera buckling procedurespa
dc.subject.keywordVisual acuityspa
dc.subject.keywordX chromosome linkagespa
dc.subject.keywordX linked retinoschisisspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAgedspa
dc.subject.keywordAged, 80 and overspa
dc.subject.keywordCataractspa
dc.subject.keywordCataract extractionspa
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordCryotherapyspa
dc.subject.keywordEye proteinsspa
dc.subject.keywordFemalespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordIntraocular pressurespa
dc.subject.keywordLaser coagulationspa
dc.subject.keywordLinkage (genetics)spa
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordPedigreespa
dc.subject.keywordPhenotypespa
dc.subject.keywordRetinal detachmentspa
dc.subject.keywordRetinoschisisspa
dc.subject.keywordRetrospective studiesspa
dc.subject.keywordScleral bucklingspa
dc.subject.keywordVisual acuityspa
dc.subject.keywordBilateralspa
dc.subject.keywordFemalesspa
dc.subject.keywordFoveaspa
dc.subject.keywordGenespa
dc.subject.keywordLinkage analysisspa
dc.subject.keywordLong-term follow-upspa
dc.subject.keywordPeripheryspa
dc.subject.keywordRetinoschisisspa
dc.subject.keywordX-linkedspa
dc.titleX-linked retinoschisis in three females from the same family: A phenotype-genotype correlationspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Colecciones
Artículos