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Vol. 9, No. 4, 2002
Issue release date: July–August 2002
Section title: Original Paper
J Biomed Sci 2002;9:365–370
(DOI:10.1159/000065008)

A C597→A Polymorphism in the Norrie Disease Gene Is Associated with Advanced Retinopathy of Prematurity in Premature Kuwaiti Infants

Haider M.Z. · Devarajan L.V. · Al-Essa M. · Kumar H.
aPaediatrics Department, Faculty of Medicine, Kuwait University, bNeonatal Unit, Maternity Hospital, cOphthalmology Department, Ibn Sina Hospital, Kuwait

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 7/19/2002

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1

ISSN: 1021-7770 (Print)
eISSN: 1423-0127 (Online)

For additional information: http://www.karger.com/JBS

Abstract

Retinopathy of prematurity (ROP) is a retinal vascular disease which occurs in infants with a short gestational age and low birth weight and may lead to retinal detachment and blindness. In some premature infants, ROP progresses to advanced stages despite rigorous intervention, but in the majority, it spontaneously regresses before the threshold stage. Genetic factors, e.g. mutations in the Norrie disease (ND) gene, have been implicated in determining the progression of ROP to advanced stages. We have identified a novel C597A polymorphism of the ND gene; we screened this and another mutation in the ND gene, C110G, in 210 premature Kuwaiti infants using PCR-RFLP, DNA sequence analysis and DNA enzyme immunoassay hybridization to investigate their association with advanced-stage ROP. In this cohort of premature Kuwaiti newborns, 115 of 210 babies had no eye problems and served as controls, while 95 were found to have ROP. In 71 of the 95 ROP cases, the disease spontaneously regressed at or before stage 3, while in 24 of 95 ROP cases, the disease progressed to advanced stages 4 or 5. The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups.


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 7/19/2002

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1

ISSN: 1021-7770 (Print)
eISSN: 1423-0127 (Online)

For additional information: http://www.karger.com/JBS


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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