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Br J Ophthalmol 2004;88:581-582 doi:10.1136/bjo.2003.020305
  • Letter

Prospective case control study on genetic assocation of apolipoprotein ε2 with intraocular pressure

  1. A Jünemann1,
  2. N Wakili1,
  3. C Mardin1,
  4. G O H Naumann1,
  5. S Bleich2,
  6. K Henkel2,
  7. G Beck2,
  8. J Kornhuber2,
  9. U Reulbach3,
  10. B Rautenstrauss4 and
  11. A Reis4
  1. 1Department of Ophthalmology, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany
  2. 2Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany
  3. 3Department of Medical Informatics, Biometry and Epidemiology, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany
  4. 4Department of Human Genetics, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany
  1. Correspondence to: Dr A Jüneman Department of Ophthalmology, Friedrich-Alexander-University, Erlangen-Nuremberg, Schwabachanlage 6 Erlangen, Germany; anselm.juenemannaugen.imed.uni-erlangen
  • Accepted 7 June 2003

Glaucomas are a leading cause of blindness throughout the world. This group of diseases has a common characteristic: degeneration of the optic nerve that is usually associated with increased intraocular pressure (IOP). Increased IOP is one of the major risk factors for developing glaucomatous damage, whereby the loss of retinal ganglion cells is the typical pathological finding. However, the pathophysiology of pressure induced glaucomatous optic neuropathy remains unclear and is still a matter for debate. Genome scans have been performed to identify the genomic locations of glaucoma susceptibility genes.1

Apolipoprotein E (APOE), a lipid transporting protein produced in the liver and brain, is unique among apolipoproteins in that it has particular relevance to nervous tissue. It is involved in the mobilisation and redistribution of cholesterol in repair, growth, and maintenance of myelin and neuronal membranes during development or after injury. Recently it has been shown that the APOE ε4 allele is associated with elevated risk of normal tension glaucoma.2 The APOE ε2 allele was shown to be significantly associated with an elevated risk of age related macular degeneration (AMD).3

Material and methods

This prospective case control study included 32 controls (IOP <22 mm Hg, normal optic disc, normal visual field), 54 patients with ocular hypertension (OHT, IOP >21 mm Hg, …

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