Nanophthalmos: A Review of the Clinical Spectrum and Genetics

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorCARRICONDO, Pedro C.
dc.contributor.authorANDRADE, Thais
dc.contributor.authorPRASOV, Lev
dc.contributor.authorAYRES, Bernadete M.
dc.contributor.authorMOROI, Sayoko E.
dc.date.accessioned2018-07-05T18:07:23Z
dc.date.available2018-07-05T18:07:23Z
dc.date.issued2018
dc.description.abstractNanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.
dc.description.indexPubMed
dc.description.sponsorshipKnights Templar Eye Foundation
dc.identifier.citationJOURNAL OF OPHTHALMOLOGY, article ID 273546, 9p, 2018
dc.identifier.doi10.1155/2018/2735465
dc.identifier.eissn2090-0058
dc.identifier.issn2090-004X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/27125
dc.language.isoeng
dc.publisherHINDAWI LTD
dc.relation.ispartofJournal of Ophthalmology
dc.rightsopenAccess
dc.rights.holderCopyright HINDAWI LTD
dc.subject.otherangle-closure glaucoma
dc.subject.otherfrizzled-related protein
dc.subject.otherautosomal-dominant nanophthalmos
dc.subject.otherleber congenital amaurosis
dc.subject.otheroptic disc drusen
dc.subject.otherpigmentary retinal dystrophy
dc.subject.otherretinitis-pigmentosa
dc.subject.othercataract-surgery
dc.subject.otherposterior microphthalmos
dc.subject.otherhigh-hyperopia
dc.subject.wosMedicine, Research & Experimental
dc.subject.wosOphthalmology
dc.titleNanophthalmos: A Review of the Clinical Spectrum and Genetics
dc.typearticle
dc.type.categoryreview
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryisous
hcfmusp.author.externalPRASOV, Lev:Univ Michigan, Kellogg Eye Ctr, Dept Ophthalmol & Visual Sci, 1000 Wall St, Ann Arbor, MI 48105 USA
hcfmusp.author.externalAYRES, Bernadete M.:Univ Michigan, Kellogg Eye Ctr, Dept Ophthalmol & Visual Sci, 1000 Wall St, Ann Arbor, MI 48105 USA
hcfmusp.author.externalMOROI, Sayoko E.:Univ Michigan, Kellogg Eye Ctr, Dept Ophthalmol & Visual Sci, 1000 Wall St, Ann Arbor, MI 48105 USA
hcfmusp.citation.scopus64
hcfmusp.contributor.author-fmusphcPEDRO CARLOS CARRICONDO
hcfmusp.contributor.author-fmusphcTHAIS DE SOUZA ANDRADE BENASSI
hcfmusp.description.articlenumber273546
hcfmusp.origemWOS
hcfmusp.origem.pubmed29862063
hcfmusp.origem.scopus2-s2.0-85047613643
hcfmusp.origem.wosWOS:000432957700001
hcfmusp.publisher.cityLONDON
hcfmusp.publisher.countryENGLAND
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