Background/aims To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients.
Methods A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree.
Results Four previously identified intronic polymorphisms (IVS5+30C→T; IVS12+90 G→T; IVS13+89G→A; IVS16-30A→G) and a novel one (IVS21-75G→A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele.
Conclusions The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.
- WDR36 gene
- primary open angle glaucoma
- normal tension glaucoma
- optic nerve
- intraocular pressure
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Competing interests None.
Patient consent Obtained.
Ethics approval This study was conducted with the approval of the University of Siena.
Provenance and peer review Not commissioned; externally peer reviewed.