Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report
ABSTRACT A 89-year-old Black female with a 6-year history of advanced open-angle glaucoma was referred to the Glaucoma Service of the Ophthalmology Department - Federal University of São Paulo (UNIFESP). Best-corrected visual acuity was 20/400 in the right eye and 20/60 in the left eye. Pseudoexfoli...
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Conselho Brasileiro de Oftalmologia
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doaj-5cff6c8fc3234100a0aeb56dbcb5c16c2020-11-24T21:24:58ZengConselho Brasileiro de OftalmologiaArquivos Brasileiros de Oftalmologia1678-292581543743910.5935/0004-2749.20180084S0004-27492018000500437Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case reportGuilherme Eiichi da Silva TakitaniAlexandre Gomes Bortoloti de AzevedoFabiana Louise MottaSérgio Henrique TeixeiraJuliana Maria Ferraz SallumRoberto Murad VessaniABSTRACT A 89-year-old Black female with a 6-year history of advanced open-angle glaucoma was referred to the Glaucoma Service of the Ophthalmology Department - Federal University of São Paulo (UNIFESP). Best-corrected visual acuity was 20/400 in the right eye and 20/60 in the left eye. Pseudoexfoliation material was observed at the iris border, angle, and the anterior lens surface. Anterior biomicroscopy revealed exfoliation material forming an evident peripheral zone and a central disc separated by a clear intermediate zone on the anterior lens surface OU. Gonioscopy showed an open-angle Sampaolesis’s line and whitish material deposits OU. Fundus examination revealed a cup-to-disc ratio of 1.0 OU with peripapillary atrophy. Genetic analysis for single nucleotide polymorphisms of the lysyl oxidase-like 1 gene linked to exfoliation syndrome identified two such single nucleotide polymorphisms, rs1048661 and rs216524.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492018000500437&lng=en&tlng=enSíndrome de exfoliaçãoGrupo com ancestrais do continente africanoSíndrome de exfoliaçãoGene LOXL-1Brasil |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Guilherme Eiichi da Silva Takitani Alexandre Gomes Bortoloti de Azevedo Fabiana Louise Motta Sérgio Henrique Teixeira Juliana Maria Ferraz Sallum Roberto Murad Vessani |
spellingShingle |
Guilherme Eiichi da Silva Takitani Alexandre Gomes Bortoloti de Azevedo Fabiana Louise Motta Sérgio Henrique Teixeira Juliana Maria Ferraz Sallum Roberto Murad Vessani Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report Arquivos Brasileiros de Oftalmologia Síndrome de exfoliação Grupo com ancestrais do continente africano Síndrome de exfoliação Gene LOXL-1 Brasil |
author_facet |
Guilherme Eiichi da Silva Takitani Alexandre Gomes Bortoloti de Azevedo Fabiana Louise Motta Sérgio Henrique Teixeira Juliana Maria Ferraz Sallum Roberto Murad Vessani |
author_sort |
Guilherme Eiichi da Silva Takitani |
title |
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report |
title_short |
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report |
title_full |
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report |
title_fullStr |
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report |
title_full_unstemmed |
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report |
title_sort |
exfoliation syndrome associated with loxl1 gene polymorphisms in a black patient from latin america: a case report |
publisher |
Conselho Brasileiro de Oftalmologia |
series |
Arquivos Brasileiros de Oftalmologia |
issn |
1678-2925 |
description |
ABSTRACT A 89-year-old Black female with a 6-year history of advanced open-angle glaucoma was referred to the Glaucoma Service of the Ophthalmology Department - Federal University of São Paulo (UNIFESP). Best-corrected visual acuity was 20/400 in the right eye and 20/60 in the left eye. Pseudoexfoliation material was observed at the iris border, angle, and the anterior lens surface. Anterior biomicroscopy revealed exfoliation material forming an evident peripheral zone and a central disc separated by a clear intermediate zone on the anterior lens surface OU. Gonioscopy showed an open-angle Sampaolesis’s line and whitish material deposits OU. Fundus examination revealed a cup-to-disc ratio of 1.0 OU with peripapillary atrophy. Genetic analysis for single nucleotide polymorphisms of the lysyl oxidase-like 1 gene linked to exfoliation syndrome identified two such single nucleotide polymorphisms, rs1048661 and rs216524. |
topic |
Síndrome de exfoliação Grupo com ancestrais do continente africano Síndrome de exfoliação Gene LOXL-1 Brasil |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492018000500437&lng=en&tlng=en |
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