Nanophthalmos: A Review of the Clinical Spectrum and Genetics
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 complicati...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2018/2735465 |
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| author | Pedro C. Carricondo Thais Andrade Lev Prasov Bernadete M. Ayres Sayoko E. Moroi |
| author_facet | Pedro C. Carricondo Thais Andrade Lev Prasov Bernadete M. Ayres Sayoko E. Moroi |
| author_sort | Pedro C. Carricondo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-14961e48de284caaa58cd2e36ad71110 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-14961e48de284caaa58cd2e36ad711102025-02-03T01:12:48ZengWileyJournal of Ophthalmology2090-004X2090-00582018-01-01201810.1155/2018/27354652735465Nanophthalmos: A Review of the Clinical Spectrum and GeneticsPedro C. Carricondo0Thais Andrade1Lev Prasov2Bernadete M. Ayres3Sayoko E. Moroi4Department of Ophthalmology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, BrazilDepartment of Ophthalmology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, BrazilDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI 48105, USADepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI 48105, USADepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI 48105, USANanophthalmos 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.http://dx.doi.org/10.1155/2018/2735465 |
| spellingShingle | Pedro C. Carricondo Thais Andrade Lev Prasov Bernadete M. Ayres Sayoko E. Moroi Nanophthalmos: A Review of the Clinical Spectrum and Genetics Journal of Ophthalmology |
| title | Nanophthalmos: A Review of the Clinical Spectrum and Genetics |
| title_full | Nanophthalmos: A Review of the Clinical Spectrum and Genetics |
| title_fullStr | Nanophthalmos: A Review of the Clinical Spectrum and Genetics |
| title_full_unstemmed | Nanophthalmos: A Review of the Clinical Spectrum and Genetics |
| title_short | Nanophthalmos: A Review of the Clinical Spectrum and Genetics |
| title_sort | nanophthalmos a review of the clinical spectrum and genetics |
| url | http://dx.doi.org/10.1155/2018/2735465 |
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