Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report
| Autor: | Alexandre Gomes Bortoloti de Azevedo, Sergio H. Teixeira, Guilherme Eiichi da Silva Takitani, Roberto M Vessani, Fabiana Louise Motta, Juliana Maria Ferraz Sallum |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Visual acuity genetic structures Glaucoma Single-nucleotide polymorphism Fundus (eye) lcsh:Ophthalmology Ophthalmology Gonioscopy Medicine Iris (anatomy) Exfoliation (botany) medicine.diagnostic_test Grupo com ancestrais do continente africano business.industry Brasil Pseudoexfoliation Síndrome de exfoliação Gene LOXL-1 General Medicine medicine.disease eye diseases medicine.anatomical_structure lcsh:RE1-994 medicine.symptom business |
| Zdroj: | Arquivos Brasileiros de Oftalmologia, Vol 81, Iss 5, Pp 437-439 |
| ISSN: | 0004-2749 |
| DOI: | 10.5935/0004-2749.20180084 |
| Popis: | 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 Sao 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. |
| Databáze: | OpenAIRE |
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