Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population.

PURPOSE: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. METHODS: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. RESULTS: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17-18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93-5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47-4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23-9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62-11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06-9.06). CONCLUSION: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

Diagnosis of optic nerve head drusen using enhanced depth imaging optical coherence tomography.

PURPOSE: To evaluate the efficacy of Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT) in differentiating between optic nerve head drusen (ONHD) and optic disc oedema (ODE). METHODS: This was a cross-sectional study of 140 patients: 83 patients with ONHD (49 hidden and 34 visible), 20 patients with pseudopapilloedema (without drusen), and 37 patients with ODE. EDI-OCT of the optic nerve was performed, selecting one high-resolution line from the HD 5-line raster protocol. Two observers blindly evaluated the presence of a hyporeflective core surrounded by a hyperreflective margin or border. The sensitivity, specificity, predictive values and posttest probability were evaluated as well as the inter-observer agreement (k). RESULTS: EDI-OCT demonstrated a sensitivity of 92% (95% CI: 83%-96%), a specificity of 96% (95% CI: 87%-99%), with a positive predictive value of 97% and a negative predictive value of 89%. The inter-observer agreement was as remarkable as k = 0.8985 (95% CI 0.8252-0.9718). A positive EDI OCT increases the posttest probability to 97% (95% CI: 91%-99%); when negative, the posttest probability is reduced to 12% (95% CI: 6%-21%). CONCLUSION: EDI-OCT allowed for differentiation between ONHD and ODE with high sensitivity and specificity.