title: Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
abstract: BACKGROUND
  Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play a major role in the pathogenesis of the condition, and therefore, genetic testing to identify asymptomatic at-risk individuals is a promising strategy to reduce the prevalence of glaucoma blindness. Furthermore, unravelling genetic risk factors for glaucoma would also allow a better understanding of the pathogenesis of the condition and the development of new treatments.
  
  
  METHODS
  The Australian and New Zealand Registry of Advanced Glaucoma is a prospective study that aims to develop a large cohort of glaucoma cases with severe visual field loss to identify novel genetic risk factors for glaucoma blindness.
  
  
  METHODS
  Clinical information and blood are collected from participants after referral by eye practitioners. Samples are collected across Australia and New Zealand using postage kits.
  
  
  METHODS
  Our registry has recruited just over 2000 participants with advanced glaucoma, as well as secondary and developmental glaucomas.
  
  
  RESULTS
  A positive family history of glaucoma is present in more than half of the advanced glaucoma cases and the age at diagnosis is significantly younger for participants with affected relatives, which reinforces the involvement of genetic factors in glaucoma.
  
  
  CONCLUSIONS
  With the collection of glaucoma cases recruited so far, our registry aims to identify novel glaucoma genetic risk factors to establish risk profiling of the population and protocols for genetic testing.
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, SA 5042, Australia.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Souzeau
authors.forename: Ivan
authors.initials: I
authors.lastname: Goldberg
authors.forename: Paul R
authors.initials: PR
authors.lastname: Healey
authors.forename: Richard A D
authors.initials: RA
authors.lastname: Mills
authors.forename: John
authors.initials: J
authors.lastname: Landers
authors.forename: Stuart L
authors.initials: SL
authors.lastname: Graham
authors.forename: John R B
authors.initials: JR
authors.lastname: Grigg
authors.forename: Bronwyn
authors.initials: B
authors.lastname: Usher
authors.forename: Tania
authors.initials: T
authors.lastname: Straga
authors.forename: April
authors.initials: A
authors.lastname: Crawford
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Casson
authors.forename: William H
authors.initials: WH
authors.lastname: Morgan
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Ruddle
authors.forename: Michael A
authors.initials: MA
authors.lastname: Coote
authors.forename: Andrew
authors.initials: A
authors.lastname: White
authors.forename: James
authors.initials: J
authors.lastname: Stewart
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D004812:Epidemiologic Methods; D005260:Female; D005902:Glaucoma, Open-Angle / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009520:New Zealand / Q000453:epidemiology; D018579:Patient Selection; D011446:Prospective Studies; D012042:Registries; D012307:Risk Factors; D011795:Surveys and Questionnaires; D014786:Vision Disorders / Q000453:epidemiology / Q000235:genetics; D014794:Visual Fields