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Purpose@#To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus. @*Methods@#Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus. @*Results@#In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern. @*Conclusions@#Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.
RESUMEN
Purpose@#To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus. @*Methods@#Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus. @*Results@#In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern. @*Conclusions@#Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.
RESUMEN
Purpose@#We assessed the clinical utility of routine histopathological evaluation of the lacrimal sac during dacryocystorhinostomy. @*Methods@#From April 2009 to April 2018, we included 1,619 eyes of 1,266 patients who underwent dacryocystorhinostomy in our hospital. All lacrimal sacs were histopathologically examined. We excluded cases in which malignant lacrimal sac tumors had been preoperatively diagnosed. We retrospectively analyzed the medical records in terms of clinical manifestations, histological findings after lacrimal sac biopsy, and malignant tumors. We recorded the age, extent of bone marrow involvement, stage, and prognosis of patients with malignancies. @*Results@#We treated 217 males and 1,049 females of a mean age at diagnosis of 58.8 ± 12.3 years. The biopsy data showed that chronic inflammation with fibrosis (n = 1,026 [81.0%]) was the most common condition, followed by fibrosis (n = 133 [10.5%]), chronic inflammation (n = 94 [7.4%]), reactive lymphoid hyperplasia (n = 5 [0.4%]), malignant tumors (n = 4 [0.3%]), tubular adenomas (n = 2 [0.2%]), and papillomas (n = 2 [0.2%]). All malignant tumors were mucosal-associated lymphoid tissue lymphomas. Two of these four patients underwent additional imaging tests, but malignancies were not apparent. The other two had no specific complaints other than tearing. In addition, no abnormalities were evident on slit lamp examination or the syringing test. All four patients were cured by chemotherapy. @*Conclusions@#No clinical manifestation, physical examination or imaging data, or intraoperative finding in patients with nasolacrimal duct obstructions reliably identify a malignancy; but histological examination does.
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Purpose@#We compare the clinical outcomes of femtosecond-laser penetrating keratoplasty and penetrating keratoplasty performed using a manual trephine. @*Methods@#The clinical outcomes of 21 eyes that underwent penetrating keratoplasty using a manual trephine and 29 eyes that underwent femtosecond-laser penetrating keratoplasty were compared in terms of best-corrected visual acuity, refractive and corneal astigmatisms, endothelial cell counts, and graft rejection and failure. @*Results@#The best-corrected visual acuities measured 1, 3, 6, 12, and 18 months after surgery were logMAR 1.21, 1.28, 1.25, 1.14, and 1.43 for the manual trephine group and logMAR 0.82, 0.71, 0.78, 0.49, and 0.56 for the femtosecond-laser group; the latter group thus exhibited better visual acuity at all times. The refractive astigmatism values were 5.13, 6.35, 5.28, 5.18, and 6.36 diopters (D) for the manual trephine group and 6.09, 6.33, 5.14, 5.23, and 4.89 D for the femtosecond-laser group. The corneal astigmatism values were 5.40, 6.45, 6.30, 5.64, and 5.78 D for the manual trephine group and 6.17, 6.24, 5.72, 5.02, and 4.83 D for the femtosecond-laser group. The refractive astigmatism was significantly lower at 18 months after surgery and the corneal astigmatism was significantly lower at both 12 and 18 months after surgery in the femtosecond-laser group. None of endothelial cell count, graft rejection or failure rate, differed significantly between the two groups. @*Conclusions@#Femtosecond-laser-enabled keratoplasty affords better visual recovery, less refractive and corneal astigmatism, and better wound stability than does penetrating keratoplasty using a manual trephine.
RESUMEN
Purpose@#We assessed the clinical utility of routine histopathological evaluation of the lacrimal sac during dacryocystorhinostomy. @*Methods@#From April 2009 to April 2018, we included 1,619 eyes of 1,266 patients who underwent dacryocystorhinostomy in our hospital. All lacrimal sacs were histopathologically examined. We excluded cases in which malignant lacrimal sac tumors had been preoperatively diagnosed. We retrospectively analyzed the medical records in terms of clinical manifestations, histological findings after lacrimal sac biopsy, and malignant tumors. We recorded the age, extent of bone marrow involvement, stage, and prognosis of patients with malignancies. @*Results@#We treated 217 males and 1,049 females of a mean age at diagnosis of 58.8 ± 12.3 years. The biopsy data showed that chronic inflammation with fibrosis (n = 1,026 [81.0%]) was the most common condition, followed by fibrosis (n = 133 [10.5%]), chronic inflammation (n = 94 [7.4%]), reactive lymphoid hyperplasia (n = 5 [0.4%]), malignant tumors (n = 4 [0.3%]), tubular adenomas (n = 2 [0.2%]), and papillomas (n = 2 [0.2%]). All malignant tumors were mucosal-associated lymphoid tissue lymphomas. Two of these four patients underwent additional imaging tests, but malignancies were not apparent. The other two had no specific complaints other than tearing. In addition, no abnormalities were evident on slit lamp examination or the syringing test. All four patients were cured by chemotherapy. @*Conclusions@#No clinical manifestation, physical examination or imaging data, or intraoperative finding in patients with nasolacrimal duct obstructions reliably identify a malignancy; but histological examination does.
RESUMEN
Purpose@#We compare the clinical outcomes of femtosecond-laser penetrating keratoplasty and penetrating keratoplasty performed using a manual trephine. @*Methods@#The clinical outcomes of 21 eyes that underwent penetrating keratoplasty using a manual trephine and 29 eyes that underwent femtosecond-laser penetrating keratoplasty were compared in terms of best-corrected visual acuity, refractive and corneal astigmatisms, endothelial cell counts, and graft rejection and failure. @*Results@#The best-corrected visual acuities measured 1, 3, 6, 12, and 18 months after surgery were logMAR 1.21, 1.28, 1.25, 1.14, and 1.43 for the manual trephine group and logMAR 0.82, 0.71, 0.78, 0.49, and 0.56 for the femtosecond-laser group; the latter group thus exhibited better visual acuity at all times. The refractive astigmatism values were 5.13, 6.35, 5.28, 5.18, and 6.36 diopters (D) for the manual trephine group and 6.09, 6.33, 5.14, 5.23, and 4.89 D for the femtosecond-laser group. The corneal astigmatism values were 5.40, 6.45, 6.30, 5.64, and 5.78 D for the manual trephine group and 6.17, 6.24, 5.72, 5.02, and 4.83 D for the femtosecond-laser group. The refractive astigmatism was significantly lower at 18 months after surgery and the corneal astigmatism was significantly lower at both 12 and 18 months after surgery in the femtosecond-laser group. None of endothelial cell count, graft rejection or failure rate, differed significantly between the two groups. @*Conclusions@#Femtosecond-laser-enabled keratoplasty affords better visual recovery, less refractive and corneal astigmatism, and better wound stability than does penetrating keratoplasty using a manual trephine.