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

• Main Authors: Guilherme Eiichi da Silva Takitani, Alexandre Gomes Bortoloti de Azevedo, Fabiana Louise Motta, Sérgio Henrique Teixeira, Juliana Maria Ferraz Sallum, Roberto Murad Vessani
• Format: Article
• Language: English
• Published: Conselho Brasileiro de Oftalmologia
• Series: Arquivos Brasileiros de Oftalmologia
• Subjects: Síndrome de exfoliação; Grupo com ancestrais do continente africano; Gene LOXL-1; Brasil
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492018000500437&lng=en&tlng=en

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.