Emiliano Hernández-Galilea

Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population

Abstract Purpose: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG). Materials and methods: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing. Results: The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10−5, OR = 5.71, 95% CI: 2.30–14.18; p = 3.38 × 10−5, OR = 6.91, 95% CI: 2.51–19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10−4, OR = 2.18, 95% CI: 1.43–3.33; p = 1.21 × 10−2, OR = 2.13, 95% CI: 1.75–3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG. Conclusions: This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS.

CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients

ABSTRACT Purpose: Age-related macular degeneration (AMD) is the main cause of legal blindness in the western adult population. We investigated the association between SNPs located in CFH, ARMS2 and HTRA1 and AMD in Spanish patients. Patients and Methods: We obtained peripheral blood samples from 121 patients with a diagnosis of AMD (84 exudative and 37 atrophic) at the Department of Ophthalmology of the University Hospital of Salamanca. We took 91 subjects as a control group. We studied a single nucleotide polymorphism (SNP) in each patient for each of the genes associated with high susceptibility to developing AMD using Real-time PCR with TaqMan probes for CFH and ARMS2 polymorphisms and PCR-RFLP for HTRA1 polymorphism. Results: We observed a statistically significant difference between patients and controls in the distribution of CFH rs1410996 genotypes, patients homozygous for the C-allele have twice the risk of developing the disease (p = 0.010; OR = 2,176 (1.194–3.964)). The analysis of ARMS2 rs10490923 polymorphism also showed differences in allelic distribution between the case and control groups (p < 0.001). Carriers of the T-allele appear more frequently in the group of patients (p < 0.001; OR = 3.340 (1.848–6.060)). Our results also confirm significant differences in the distribution of HTRA1 rs112000638 polymorphism with an increased representation of the G-allele in the patient’s group (p < 0.001; OR = 6.254(3.463–12.280)). Our study also indicates that TTGG ARMS2/HTRA1 (rs10490923/rs112000638) haplotype increases the risk of developing AMD by 9 times. Conclusions: Our results show that genotypes of ARMS2 (rs10490923), HTRA1 (rs112000638) and CFH (rs1410996) polymorphisms are related to an increased risk of suffering AMD in Spanish patients.

Cambios morfométricos de las células del endotelio corneal en el síndrome pseudoexfoliativo y glaucoma pseudoexfoliativo

OBJECTIVE To evaluate the corneal endothelial morphometry and central corneal thickness (CCT) in pseudoexfoliative (PEX) eyes with and without glaucoma and to compare with normal eyes and eyes with primary open-angle glaucoma (POAG). METHOD A total of 166 patients were included in this study: 36 eyes with pseudoexfoliation syndrome (PXS), 30 eyes with pseudoexfoliation glaucoma (PXG), 40 eyes with POAG, and 60 normal eyes. Corneal endothelial cell density (ECD), coefficient of variation (CV) in cell size, and percentage of hexagonal cells, were measured using a non-contact specular microscope, whereas CCT was measured with an ultrasonic pachymeter. RESULTS ECD and percentage of hexagonal cells were lower in PEX groups and in the POAG group compared with normal eyes, while the CV in cell size was greater. There was a tendency for greater cell loss and morphological abnormalities of the corneal endothelial cells in PXG eyes compared to PXS eyes, when all pseudoexfoliative eyes were analyzed together. Changes in endothelial cells increased with age. There were no significant differences in mean CCT between the four groups. CONCLUSION Endothelial cell density is significantly decreased, and pleomorphism and polymegathism of cells are increased in PEX eyes, particularly when intraocular pressure is high.

Impacto de la capsulotomía Nd: YAG en la calidad de vida de pacientes pseudofáquicos

OBJECTIVE To determine whether visual acuity (VA) improvement in patients with posterior capsule opacification (PCO), accepted after the capsulotomy, is followed by positive changes in the perception of their quality of life. METHOD A total of 130 patients with PCO were examined before and after capsulotomy. In addition to the ophthalmic examination, the EuroQol questionnaire was completed. We analyzed the influence of demographic characteristics on the outcome of the test. RESULTS The mean binocular visual acuity (BVA) and the mean scores in the EuroQol dimensions and EQ-VAS improved significantly after capsulotomy. VA did not have the same effect on daily common tasks. After treatment, the problems in the usual activities dimension have seen the largest reduction. Mobility is still the dimension with more problems regarding patients after capsulotomy. CONCLUSIONS Decreased VA induced by PCO is associated with difficulties performing daily living activities. Capsulotomy results in a gain in VA and functional ability of the majority of patients, improving the perception of their quality of life.

Investigation of Association between Autophagy-Related Gene Polymorphisms and Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population

ABSTRACT Purpose: Cellular stress conditions are important mechanisms implicated in the pathogenesis of pseudoexfoliation syndrome. One of the potential cellular responses to these stress conditions is induction of autophagy. The purpose of this study was to evaluate whether genetic variants in three critical genes of autophagy (ATG16L, ATG2B, ATG5) may be involved in the development of pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) in a Spanish population. Methods: 108 patients (64 XFS, 44XFG) and 118 healthy controls were evaluated. The analysis of genetic polymorphisms was performed by standard TaqMan allelic discrimination technique. Results: No significant differences in either genotype distributions or allelic frequencies of the tested polymorphisms were found between patients with XFS/XFG and control subjects. Conclusions: Our results suggest that these three genes that are critical components of the autophagy pathway (ATG16L, ATG2B, ATG5) are not significant risk factors among Spanish patients with either XFS or XFG.

Lesión macular bilateral tras la manipulación de un láser femtosegundo

CASE REPORT We describe the case of a 35-year-old man who arrived in the Emergency Department with bilateral macular injury caused by accidental exposure to an industrial femtosecond laser. DISCUSSION Workers operating industrial lasers must protect their eyes properly when handling these devices. Otherwise, retina damage may occur which usually is recoverable. However, sometimes this damage causes permanent visual loss.