ONLINE MUTATION REPORT

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

T Aung^1,2,3, N D Ebenezer¹, G Brice⁴, A H Child^2,4, Q Prescott¹, O J Lehmann^1,2, R A Hitchings², S S Bhattacharya¹

¹ Institute of Ophthalmology, University College London, UK
² Moorfields Eye Hospital, London, UK
³ Singapore National Eye Centre, Singapore
⁴ St George’s Hospital Medical School, London, UK

Correspondence to:
Correspondence to:
Mr T Aung, Department of Molecular Genetics, Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK;
aung_tin@yahoo.co.uk

Keywords: optineurin mutations; glaucoma

Abbreviations: HTG, high tension glaucoma; IOP, intraocular pressure; MYOC, myocilin; NTG, normal tension glaucoma; OPTN, optineurin; POAG, primary open angle glaucoma; PCR, polymerase chain reaction; SNP, single nucleotide polymorphism

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

Glaucoma, the leading cause of irreversible blindness world wide, affecting about 70 million people,^1,2 is characterised by progressive loss of optic nerve axons and visual field damage. As the condition is insidious, the diagnosis is often missed and the disease detected only later when patients have severe and irreversible visual impairment. Adult primary open angle glaucoma (POAG) is a major form of glaucoma world wide. Most POAG in white and Afro-Caribbean populations is of the high tension glaucoma (HTG) type, with raised intraocular pressure (IOP) being a major contributory factor for visual loss.^3–6 Normal tension glaucoma (NTG) is another important subtype of POAG in which typical glaucomatous cupping of the optic nerve head and visual field loss are present, but IOPs are consistently within the statistically normal population range. This accounts for about a third of all patients with POAG.^4–7

Although the proportion of cases of glaucoma with a genetic . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Craig, J E, Hewitt, A W, Dimasi, D P, Howell, N, Toomes, C, Cohn, A C, Mackey, D A (2006). The role of the Met98Lys optineurin variant in inherited optic nerve diseases. Br J Ophthalmol 90: 1420-1424 [Abstract] [Full Text]  
• Funayama, T., Ishikawa, K., Ohtake, Y., Tanino, T., Kurosaka, D., Kimura, I., Suzuki, K., Ideta, H., Nakamoto, K., Yasuda, N., Fujimaki, T., Murakami, A., Asaoka, R., Hotta, Y., Tanihara, H., Kanamoto, T., Mishima, H., Fukuchi, T., Abe, H., Iwata, T., Shimada, N., Kudoh, J., Shimizu, N., Mashima, Y. (2004). Variants in Optineurin Gene and Their Association with Tumor Necrosis Factor-{alpha} Polymorphisms in Japanese Patients with Glaucoma. IOVS 45: 4359-4367 [Abstract] [Full Text]