Lack of Association of Mutations in Optineurin With Disease in Patients With Adult-onset Primary Open-angle Glaucoma

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

“…Unexpectedly, we did not detect any convincing sequence variation that could be defined as a diseasecausing mutation. These results are in keeping with other recent studies from the US [1,23], UK [2] and, more interestingly, even from Japan [18,19].…”

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

“…Of the eight relatives who have not inherited a mutation, none are thought to have glaucomatous damage but one is being treated for ocular hypertension, suggesting the importance of other genetic factors in glaucoma susceptibility. One such possible gene, optineurin, was recently identified in POAG families (Rezaie et al 2002), but it has already been shown that mutations in this gene are not associated with high-tension glaucoma in the general population (Alward et al 2003;Aung et al 2003;Wiggs et al 2003). A specific p53 gene haplotype has also recently been associated with late-onset POAG (Ressiniotis et al 2004).…”

Advances in glaucoma genetics

“…The first report on OPTN mutations indicated that the E50K mutation was the most prevalent mutation and observed in 13.5% of all familial POAG cases (Rezaie et al, 2002). Subsequence reports have demonstrated that the prevalence of mutations in the OPTN gene is between 0% and 6% in POAG patients and the prevalence of the E50K mutation is approximately 1% (Aung et al, 2003;Hauser et al, 2006b;Leung et al, 2003;Melki et al, 2003;Sripriya et al, 2006;Tang et al, 2003;Toda et al, 2004;Wiggs et al, 2003). Phenotypically, the E50K mutation has been reported to be associated with a younger age and a more severe form of NTG at the diagnosis (Aung et al, 2005a;Hauser et al, 2006b).…”