PURPOSE. Glucose-6-phosphate dehydrogenase (G6PD) deﬁ- ciency is one of the most common human genetic abnormalities, with a high prevalence in Sardinia, Italy. Evidence indicates that G6PD-deﬁcient patients are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the frequency of G6PD deﬁciency in Sardinian patients with nonarteritic anterior ischemic optic neuropathy (NAION) and ascertain whether G6PD deﬁciency may offer protection against NAION. METHODS. Erythrocyte G6PD activity was determined by using a quantitative assay in 140 patients with NAION and 280 ageand gender-matched comparison patients. Conditional logistic regression models were used to investigate the association between G6PD deﬁciency and NAION. RESULTS. G6PD deﬁciency was found in 7 (5%) patients with NAION and 34 (12.1%) control subjects. Differences between cases and controls were statistically signiﬁcant (P 0.02). Conditional logistic regression analysis, including as covariates G6PD deﬁciency, hypertension, diabetes, and hypercholesterolemia, revealed that G6PD deﬁciency was signiﬁcantly associated with decreased risk for NAION (odds ratio [OR] 0.4, 95% conﬁdence interval [CI] 0.17– 0.94, P 0.035). Conditional logistic regression analyses, including systolic or diastolic blood pressure and plasma glucose and cholesterol levels conﬁrmed that G6PD deﬁciency was associated with a decreased risk for NAION, but the ORs were not signiﬁcant at the 0.05 signiﬁcance level (P 0.085 and P 0.071). Models including gender G6PD deﬁciency interaction disclosed that gender was not an effect modiﬁer of G6PD deﬁciency (P 0.20). CONCLUSIONS. The frequency of G6PD deﬁciency in patients with NAION was signiﬁcantly lower than expected. Results suggest that G6PD-deﬁcient patients in the Sardinian population have a signiﬁcantly decreased risk of having NAION.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy / Pinna, Antonio; Solinas, Maria Giuliana; Masia, C; Zinellu, A; Carru, C; Carta, A.. - In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. - ISSN 0146-0404. - 49:(2008), pp. 1328-1332. [10.1167/iovs.07-1115]