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Editors Selection IGR 12-4

Genetics

Comment by Rand Allingham on:

12495 Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene, Aung T; Rezaie T; Okada K et al., Investigative Ophthalmology and Visual Science, 2005; 46: 2816-2822

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It has only been eight years since Stone and coworkers first identified mutations in a gene that caused POAG. Mutations in that gene, myocilin (MYOC), have been shown to cause POAG, often of a juvenile variety. Many, but not all myocilin mutations are associated with a clinically aggressive form of glaucoma that is characterized by high IOP and the frequent need for surgical intervention. More recently, variations in another gene, optineurin (OPTN), have been associated with the development of POAG. In contrast, OPTN is characterized by somewhat later onset of disease and a normal tension form of open angle glaucoma (NTG). Aung et al. (444) present their clinical findings in patients with the E50K mutation of OPTN. A comparison of 11 NTG patients with the E50K mutation was made with a control group of NTG patients who had at least five years follow up. The investigators found that those patients with the OPTN mutation had an earlier age of onset, lower presenting IOP, greater optic nerve cupping, and required surgical treatment at a higher rate than the control group without mutations in OPTN.

Patients with the OPTN mutation had an earlier age of onset, lower presenting IOP, greater optic nerve cupping, and required surgical treatment at a higher rate than the control group without mutations in OPTN

Although it was not significantly different than the control group, all glaucoma patients with the OPTN mutation demonstrated visual field progression over a five year period. The authors appropriately note that this is retrospective study using a relatively small number of patients with the E50K mutation. Furthermore, the comparison is between largely familial cases of NTG with sporadic cases. The effect of other shared genes among the familial cases on the glaucoma phenotype can not be determined and may be substantial. The described presence of unaffected E50K mutation carriers of varying ages supports the impression that the influence of this variant on the phenotype is complex.

Despite these acknowledged shortcomings, this is an interesting study that provides an early glimpse into the effect of this variant of OPTN on the glaucoma phenotype. Longer term prospective studies of this and other mutations in OPTN will help clarify the role that these variants have on the development of glaucoma.

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