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IERG Abstracrt Book.indd - LV Prasad Eye Institute

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IBP 008Basic Poster Sessions65Molecular Genetic Analysis of Norrie Disease Pseudoglioma (NDP) Gene inFamilial Exudative Vitreo Retinopathy (FEVR) Patients and Indian Retinopathy ofPrematurity (ROP) BabiesGaneswara Rao Musada, 1 Subhadra Jalali, 2 Padmaja K Rani, 2 Anupama Reddy, 3 G Pramod Reddy, 3Inderjeet Kaur 11Hyderabad <strong>Eye</strong> Research Foundation, 2 Hyderabad <strong>Eye</strong> <strong>Institute</strong>, L V <strong>Prasad</strong> <strong>Eye</strong> <strong>Institute</strong>,3Fernandez Hospital, Hyderabad, IndiaPurpose: The study aims to screen the NDP gene in Indian patients with FEVR and ROP inorder to understand its role in disease pathogenesis.Methods: A total of 70 FEVR cases, 78 premature babies with different stages of ROP and 80babies with No-ROP (gestational age G substitution resulted in H50D change inthe Cysteine knot domain of norrin protein (SIFT score: 0.00). Two variations, a 14bp deletion inCT repeat region of 5’UTRand nucleotide substitution (c.1332G>A) in 3’UTR were observedin two ROP babies and two FEVR cases.Conclusions: The mutations observed in FEVR cases were predominantly confined to codingregion whereas in ROP babies variations were observed in the UTR of NDP gene therebysupporting the previous findings that structural changes observed in the norrin may lead toFEVR and changes occurred in norrin expression along with premature birth may predisposebabies to ROP.IBP 009Lysyl Oxidase and its Isoforms in Plasma and Aqueous Humor of PseudoexfoliationPatientsR Gayathri, 1 K Coral,1 L Vijaya, 2 A Sripriya, 2 S Sripriya, 3 Manish Panday, 2 N Angayarkanni 11Biochemistry and 2 Cell Biology Dept, 3 Dept of Genetics, Vision Research Foundation, Chennai,IndiaPurpose: Pseudoexfoliation syndrome (PXF) is a generalised, genetically determined, elasticprocess of the ECM characterised by the excessive production and progressive accumulationof a fibrillar material in various tissues including the outflow pathways. Lysyl oxidase (LOX)catalyzes the covalent cross-link of collagens and elastin in the extracellular environment,thereby determining the mechanical properties of ECM and connective tissues. This study wasdone to see the changes in the LOX and its isoforms in the plasma and aqueous humor of PXFcases compared to cataract control.Methods: Plasma and aqueous samples were collected from 17 cataract controls (mean ageof 63 ± 9 years, M:8, F:9) and 22 Pseudoexfoliation cases (mean age of 65 ± 7 years, M:15,F:7), with an informed consent. LOX activity was estimated in plasma and aqueous samples by

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