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  1. Harminder S Dua,
  2. Arun D Singh, Editors-in-Chief

https://doi.org/10.1136/bjophthalmol-2011-300199

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    Frezzotti et al assessed the involvement of WDR36 sequence variance in 34 Italian families affected by primary open-angle glaucoma (POAG). Twenty-five families were affected by high-tension glaucoma (HTG), four by juvenile glaucoma and one by normal tension glaucoma. Five intronic polymorphisms (IVS5+30C/T; IVS12+90 G/T; IVS13+89G/A; IVS16-30A/G; IVS21-75G/A) were identified. In addition, one proband was found to carry the p.D658G mutation. These findings suggest that the WDR36 sequence variance is only rarely observed. Extensive studies are needed to identify the role of genetic factors in the pathophysiology of glaucoma. (See page 624)

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