Nanophthalmos: A Review of the Clinical Spectrum and Genetics

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art_CARRICONDO_Nanophthalmos_A_Review_of_the_Clinical_Spectrum_and_2018.PDF (3.12 MB)
Citações na Scopus
64
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
HINDAWI LTD
Autores
PRASOV, Lev
AYRES, Bernadete M.
MOROI, Sayoko E.
Citação
JOURNAL OF OPHTHALMOLOGY, article ID 273546, 9p, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Nanophthalmos 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.
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URI
https://observatorio.fm.usp.br/handle/OPI/27125
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/33