OPERE KONJENİTAL KATARAKT HASTALARINDA METABOLİK PROFİLİN ERKEN VE GEÇ DÖNEM KOMPLİKASYONLARINA ETKİSİNİN ARAŞTIRILMASI

Abstract

Congenital cataract is a lens opacification, present in the birth or occuring in the early postnatal period. Overall prevalance is known for 1.71/10.000. It’s a rare disease, but one of the most important cause of childhood blindness and low vision. The reason of the 5-20% of the chilhood blindness is congenital cataract. Appropriate management of the vision threatening cataract include cataract extraction, eyeglass/contact lens prescription and struggle against amblyopia. One of the most critical entity is the time of the surgery. In unilateral cataract, risk of amblyopia development is higher than the bilateral cases. It is adviced to do the surgery at 4-6 weeks in unilateral cataract and 6-8 weeks in bilateral cataract. In bilateral cataract, surgery time could be extended a little longer, like 10 weeks. Metabolomics is a rapidly involving biochemical study field that gives us the opportunity of the analysing and comparing of the endogenous and exogenous metabolites in the biological systems. In this study, participants were separated into two groups according to glaucoma development after cataract extraction surgery, aiming to find a possible biomarker while comparing the metabolic profile between groups, to predict glaucoma incident. 48 patients were included. 9 of them have been following for glaucoma. 1 patient died during study, and did not included any of the groups. 5 were male (55.6%), 4 were female (44.4%) in glaucoma group; 16 were male (42.1%), 22 were female (57.9%) in control group (p=0.486). 38 patient were diagnosed with bilateral congenital cataract, 10 patient were diagnosed with unilateral congenital cataract (5 right, 5 left). Median diagnosis year was 3 (3-6) months in glaucoma group and 3 (2-9) months in control group (p=0.720). At the time of surgery, median age was 4 (3-7.5) months in glaucoma group, 6.5 (3.75-18) months old in control group (p=0.409). Mean age of the patients was 8.13±5.11 (1.50-18) years old and 9.51±3.42 (2.00-15.00) years old when included in the study in glaucoma and control group respectively (p= 0.330). According to cooperation status, visual acuity, corneal topography, biometry, biomicroscopy, fundus examination, ultrasonography examination have been done and recorded in outpatient clinic or under general anesthesia. 1mL peripheric blood sample was obtained from all of the patient. After being centrifujed, all samples have been preserved in eppendorf tube in -80°C until the beginning of analysing process. GC-MS ve LC-qTOF-MS based metabolomics analysis have been completed. 327 metabolite that has been defined already in Fiehn and Golm library, has been recognised in this study. A statistically difference has been found in 17 of them among two groups. Myo-inositol (p=0.001), proline (p=0.008), 3-indolelactic acid (p=0.010), glyseric acid (p=0.012), choline (p=0.023), malic acid (p=0.035), trans-4-hydroxy-L-proline (p=0.037), phosphatdylethanolamine (p=0.044), isocitric acid (p=0.041), phosphatdylethanolamine (p=0.044) have been found to be upregulated in glaucoma group. Mean pathways that is affected statistically significant between groups were arginin and proline metabolism (p=0.011), glyoxylate and dicarboxylate metabolism (p=0.008), glycine, serine and threonine metabolism (p=0.008), ascorbate and aldarate metabolism (p=0.035). Methionine (p=0.589), tryptophan (p=0.542) and homoserine (p=0.085) levels have been found to be downregulated in glaucoma group, but this changing has not been statistically significant. This untargeted metabolomics study is the first metabolomics study of congenital cataract patients. This study may be thought like a pilot study of a targeted metabolomics study aiming to discover potential biomarker that predicting glaucoma incident after congenital cataract surgery.