Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report

• Published in: Arquivos brasileiros de oftalmologia 2018-09, Vol.81 (5), p.437-439
• Main Authors: Takitani, Guilherme Eiichi da Silva, Azevedo, Alexandre Gomes Bortoloti de, Motta, Fabiana Louise, Teixeira, Sérgio Henrique, Sallum, Juliana Maria Ferraz, Vessani, Roberto Murad
• Format: Article
• Language: English
• Subjects: OPHTHALMOLOGY
• ISSN: 0004-2749; 1678-2925; 1678-2925
• DOI: 10.5935/0004-2749.20180084

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 nucleo-tide polymorphisms of the lysyl oxidase-like 1 gene linked to exfoliation syndrome identified two such single nucleotide polymorphisms, rs1048661 and rs216524.