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

Arq Bras Oftalmol. 2018 Sep-Oct;81(5):437-439. doi: 10.5935/0004-2749.20180084.

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

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged, 80 and over
  • Amino Acid Oxidoreductases / genetics*
  • Black People
  • Exfoliation Syndrome / diagnostic imaging
  • Exfoliation Syndrome / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Polymorphism, Single Nucleotide

Substances

  • Amino Acid Oxidoreductases
  • LOXL1 protein, human