Back to Journals » Clinical Ophthalmology » Volume 4

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece

Authors Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB

Published 17 March 2010 Volume 2010:4 Pages 171—178


Review by Single-blind

Peer reviewer comments 2

George Kitsos1, Zacharias Petrou2, Maria Grigoriadou3, John R Samples4, Alex W Hewitt5, Haris Kokotas3, Aglaia Giannoulia-Karantana3, David A Mackey6, Mary K Wirtz4, Marilita Moschou7, John PA Ioannidis8, Michael B Petersen3

1Department of Ophthalmology, University of Ioannina, School of Medicine, Ioannina, Greece; 2Department of Ophthalmology, General Hospital of Ioannina “G Chatzikosta”, Ioannina, Greece; 3Department of Genetics, Institute of Child Health, Athens, Greece; 4Department of Ophthalmology, Casey Eye Institute-OHS U, Portland, OR; 5Department of Ophthalmology, Flinders University, Adelaide, Australia; 6Center for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia; 7Department of Ophthalmology, University of Athens, School of Medicine, Athens, Greece; 8Department Hygiene and Epidemiology, University of Ioannina, School of Medicine, Ioannina, Greece

Background: Mutations in the MYOC gene have been shown to explain 5% of unrelated primary open angle glaucoma (POAG) in different populations. In particular, the T377M MYOC mutation has arisen at least three separate times in history, in Great Britain, India, and Greece. The purpose of this study is to investigate the distribution of the mutation among different population groups in the northwestern region of Greece.

Materials and methods: We explored the distribution of the “Greek” T377M founder mutation in the Epirus region in Northwestern Greece, which could be its origin. Genotyping was performed in POAG cases and controls by PCR amplification of the MYOC gene, followed by digestion with restriction enzyme. Statistical analyses were performed by an exact test, the Kaplan–Meier method and the t-test.

Results: In the isolated Chrysovitsa village in the Pindus Mountains, a large POAG family demonstrated the T377M mutation in 20 of 66 family members while no controls from the Epirus region (n = 124) carried this mutation (P < 0.001). Among other POAG cases from Epirus, 2 out of 14 familial cases and 1 out of 80 sporadic cases showed the mutation (P = 0.057). The probability of POAG diagnosis with advancing age among mutation carriers was 23% at age 40, and reached 100% at age 75. POAG patients with the T377M mutation were diagnosed at a mean age of 51 years (SD ± 13.9), which is younger than the sporadic or familial POAG cases: 63.1 (SD ± 11) and 66.8 (SD ± 9.8) years, respectively.

Conclusions: The T377M mutation was found in high proportion in members of the Chrysovitsa family (30.3%), in lower proportion in familial POAG cases (14.2%) and seems rare in sporadic POAG cases (1.2%), while no controls (0%) from the Epirus region carried the mutation. Historical and geographical data may explain the distribution of this mutation within Greece and worldwide.
Keywords: primary open angle glaucoma, GLC1C, myocilin, MYOC, founder mutation

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF] 


Other articles by this author:

Results of a modified non-penetrating deep sclerectomy in the treatment of open angle glaucoma with or without cataract

George Kitsos, Miltiades Aspiotis, Yannis Alamanos, et al

Clinical Ophthalmology 2010, 4:695-701

Published Date: 28 June 2010

A modified deep sclerectomy with or without external trabeculectomy: a comparative study

George Kitsos, Miltiades Aspiotis, Yannis Alamanos, et al

Clinical Ophthalmology 2010, 4:557-564

Published Date: 15 June 2010

Primary open angle glaucoma and hypothyroidism

George Kitsos, Chrisavgi Pappa, Agathoklis Tsatsoulis

Clinical Optometry 2010, 2:5-8

Published Date: 14 January 2010

Readers of this article also read:

Green synthesis of water-soluble nontoxic polymeric nanocomposites containing silver nanoparticles

Prozorova GF, Pozdnyakov AS, Kuznetsova NP, Korzhova SA, Emel’yanov AI, Ermakova TG, Fadeeva TV, Sosedova LM

International Journal of Nanomedicine 2014, 9:1883-1889

Published Date: 16 April 2014

Methacrylic-based nanogels for the pH-sensitive delivery of 5-Fluorouracil in the colon

Ashwanikumar N, Kumar NA, Nair SA, Kumar GS

International Journal of Nanomedicine 2012, 7:5769-5779

Published Date: 15 November 2012

A novel preparation method for silicone oil nanoemulsions and its application for coating hair with silicone

Hu Z, Liao M, Chen Y, Cai Y, Meng L, Liu Y, Lv N, Liu Z, Yuan W

International Journal of Nanomedicine 2012, 7:5719-5724

Published Date: 12 November 2012

Cross-linked acrylic hydrogel for the controlled delivery of hydrophobic drugs in cancer therapy

Deepa G, Thulasidasan AK, Anto RJ, Pillai JJ, Kumar GS

International Journal of Nanomedicine 2012, 7:4077-4088

Published Date: 27 July 2012

Crystallization after intravitreal ganciclovir injection

Pitipol Choopong, Nattaporn Tesavibul, Nattawut Rodanant

Clinical Ophthalmology 2010, 4:709-711

Published Date: 14 July 2010