LETTER TO JMG

The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma

R Melki^1,2, A Belmouden², O Akhayat², A Brézin³, H-J Garchon¹

¹ INSERM U580, Hôpital Necker, Paris, France
² Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences, Université Ibnou Zohr, Agadir, Morocco
³ Service d’Ophthalmologie, Hôpital Cochin, Paris, France

Correspondence to:
Correspondence to:
Dr H-J Garchon
INSERM U580, Hôpital Necker, 161 rue de Sèvres, 75743 Paris Cedex 15, France; garchon@necker.fr

Keywords: potineurin; glaucoma; M98K

Abbreviations: POAG, primary open angle glaucoma; IOP, intraocular pressure; NTG, normal tension glaucoma; OPTN, OPTINEURIN; PCR, polymerase chain reaction

The first 150 words of the full text of this article appear below.

Primary open angle glaucomas (POAGs) are the commonest form of glaucoma among Caucasians. They are defined by an excavation of the optic nerve head, a progressive loss of the visual field, and a normally open iridocorneal angle.¹ Their prevalence is 1–2% and they are a major cause of irreversible blindness in Western countries.² Albeit not necessary to the definition of POAG, an elevation of intraocular pressure (IOP) is a major contributory factor, and its lowering is at present the only available therapeutic strategy. In a subset of POAG patients, however, the IOP remains in the normal range—that is, less than 21 mm Hg, defining normal tension glaucoma (NTG).³ Whether NTG constitutes a pathological entity distinct from POAG is debated.⁴

Genetic factors play a major role in POAG predisposition. The genetic basis of POAG, is complex and heterogeneous.⁵ Recently, the OPTINEURIN (OPTN) gene on chromosome 10p14 was shown to be implicated . . . [Full text of this article]

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