Genetyka molekularna zespołu pseudoeksfoliacji

Exfoliation syndrome is an age-related disorder of the extracellular matrix, characterized by progressive accumulation of abnormal fibrillar material in several ocular and extraocular tissues. Although the exact etiopathogenesis is still unknown, several genetic and environmental factors appear to be involved in disease pathogenesis. Recently, single nucleotide polymorphisms in lysyl oxidase-like 1 have been found to be strongly associated with exfoliation syndrome. Dysregulation of lysyl oxidase-like 1 specifity and activity, an enzyme with a role in tropoelastin cross-linking and elastin homeostasis is thought to be involved in the development of exfoliation syndrome. This review aims to examine the recent genetic findings in the disease process.Zespół pseudoeksfoliacji to związane z wiekiem zaburzenie macierzy zewnątrzkomórkowej, charakteryzujące się postępującym odkładaniem się nieprawidłowego materiału fibrylarnego w różnych tkankach oka i poza nimi. Dokładna etiopatogeneza choroby pozostaje nieznana, jednak wydaje się, że istnieje kilka czynników genetycznych i środowiskowych w nią zaangażowanych. Niedawno wykazano, że polimorfizmy pojedynczego nukleotydu w obrębie oksydazy lizynowej 1 są silnie powiązane z zespołem pseudoeksfoliacji. Dysregulacja swoistości i aktywności oksydazy lizynowej 1, czyli enzymu odgrywającego rolę w sieciowaniu tropoelastyny i homeostazie elastyny, jest uważana za jeden z czynników rozwoju zespołu pseudoeksfoliacji. Celem niniejszej pracy jest przeanalizowanie najnowszych doniesień dotyczących genetyki wspomnianego procesu chorobowego

Association of Loxl1 Gene Polymorphisms with Exfoliation Syndrome/Glaucoma and Primary Open Angle Glaucoma in A Turkish Population

Purpose To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. Methods Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. Results The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198–0.564, p=2.54×10−5) and XFG (OR=0.366, 95% CI: 0.219–0.611, p=8.56×10−5) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003–0.188, p=3.69×10−9). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45×10−8) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358–0.776, p=0.001). Conclusions The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.PubMedWo

The Utility Of Margin-Reflex Distance In Determining The Type Of Surgical Intervention For Congenital Blepharoptosis

Aims: To evaluate the utility of margin-reflex distance (MRD) as an alternative to levator function (LF) in choosing the appropriate surgical procedure for congenital blepharoptosis. Settings and Design: This was a retrospective, observational study. Subjects and Methods: Records of patients with simple (dystrophic) congenital ptosis who were operated and followed for ≥6 months postoperatively and whose outcomes were deemed as successful were evaluated in the study. Success was defined as a MRD at the last postoperative visit of ≥3 mm. In all cases, levator resection was performed when LF was >4 mm and frontalis suspension when LF was ≤4 mm. Statistical Analysis Used: For statistical evaluations, LF was accepted as the gold standard parameter for deciding on the surgical intervention, and the optimum cutoff point for initial MRD was determined as the point at which sensitivity and specificity was highest at the receiving operating curve for the selection of surgical procedure. Results: Of one hundred and three eyes of ninety patients (44 female/46 male), levator resection was used in 44.7% and frontalis suspension in 55.3%. When the optimum cutoff point for MRD was determined as 0.5 mm, the sensitivity was 71%, specificity was 86%, and the area under the curve that represented the discriminative power of this parameter was found to be 0.826. Conclusion: The MRD at the cutoff point of 0.5 mm may be used as an alternative to LF to determine the type of surgical intervention in patients with congenital blepharoptosis whose LF cannot be reliably obtained in clinical evaluations.PubMedWoSScopu

Prognostic value of metal-metal contact during nasolacrimal duct probing

Objective: To evaluate the prognostic value of metal metal contact during nasolacrimal duct (NLD) probing in patients with simple membranous versus complex congenital NLD obstructions (CNLDO)

Clinical And Impression Cytology Findings Of Amniotic Membrane And Oral Mucosal Membrane Transplantation For The Management Of Socket Contracture

AIM: To investigate and compare the cytopathological and clinical effects of amniotic membrane transplantation (AMT) and oral mucosal membrane transplantation (OMMT) in socket contraction. METHODS: Twelve patients who could not be fitted with ocular prosthesis due to socket contracture were included in this study. Seven patients underwent AMT and 5 patients underwent OMMT. Thirteen patients who had healthy sockets were included as control group. Depth of inferior fornix, degree of inflammation, extent of the socket contracture and socket volume were measured in the preoperative period and at sixth and twelfth weeks postoperatively. Impression cytology of conjunctival fornices and tear transforming growth factor beta-1 (TGF beta 1) levels were determined. RESULTS: In the AMT group, socket volume and lower fornix depth values were significantly higher (P=0.030 and P=0.004 respectively) and inflammation levels and impression cytology stages (P=0.037 and P=0.022 respectively) were significantly lower in postoperative period compared to preoperative period. In the OMMT group, no statistical differences were found in terms of clinical parameters, inflammation levels and impression cytology stages of preoperative versus postoperative values. Preoperative tear. TGF beta 1 levels were higher in AMT and OMMT groups compared to the control group (25.5 ng/mL, 26.3 ng/mL and 21.7 ng/mL respectively). Decreased tear TGF beta 1 levels were observed in both the AMT and OMMT groups postoperatively (median decrease value=2.1 ng/mL and 2.7 ng/mL respectively). CONCLUSION: AMT is associated with postoperative improvement in inferior fornix depth, socket volume, inflammation and impression cytology levels and may be a more proper alternative method than OMMT in the management of socket contracture.Wo