Journal Mobile Options
Table of Contents
Vol. 37, No. 3, 2005
Issue release date: May–June 2005
Section title: Original Paper
Ophthalmic Res 2005;37:159–167
(DOI:10.1159/000086073)

Genotype-Phenotype Correlation in Italian Families with Stargardt Disease

Simonelli F. · Testa F. · Zernant J. · Nesti A. · Rossi S. · Allikmets R. · Rinaldi E.
aDepartment of Ophthalmology, Second University of Naples, Naples, Italy; Departments of bOphthalmology and cPathology, Columbia University, New York, N.Y., USA

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 7/15/2005

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 3

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

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

Abstract

Autosomal recessive Stargardt disease (STGD) has been associated with substantial genetic and phenotypic heterogeneity. By systematic clinical analyses of STGD patients with complete genetic data (i.e. identified mutations on both alleles of the ABCA4 gene), we set out to determine phenotypic subtypes and to correlate these with specific ABCA4 alleles. Twenty-eight patients from 18 families with STGD/fundus flavimaculatus were investigated. All patients were submitted to complete ophthalmologic examination, electrophysiology, fluorescein angiography and ABCA4 gene chip analysis. Two main clinical phenotypes were observed among the examined patients. The severe phenotype was characterized by the onset of the disease <20 years and reduced ERG response, whereas the mild phenotype presented with later onset of the disease and a normal ERG response. Genetic analysis of the ABCA4 gene revealed, in the severe group, more frequently deletions, stop codons and insertions as compared to the mild phenotype group (p = 0.0113 by Fisher’s exact test). Moreover, the compound heterozygous mutations G1961E/5018 + 2T → C found in 7 patients from 3 unrelated STGD families were associated with a mild phenotype in all subjects, except 1. This study documented variability of the clinical expression of STGD in relation to the age of onset of the disease, fundus appearance and the ERG response and allowed to subdivide patients into a severe and a mild phenotype group. These findings suggest that an extensive and comprehensive genetic analysis of STGD patients combined with thorough clinical evaluation, including the careful recording of the age of onset of the disease, would allow a more precise prognostic evaluation.


  

Author Contacts

Prof. Dr. Francesca Simonelli
Department of Ophthalmology, Second University of Naples
Piazza Leonardo, 14
IT–80129 Napoli (Italy)
Tel./Fax +39 081 5666767, E-Mail franctes@tin.it

  

Article Information

Received: July 13, 2004
Accepted after revision: January 7, 2005
Published online: May 31, 2005
Number of Print Pages : 9
Number of Figures : 1, Number of Tables : 3, Number of References : 33

  

Publication Details

Ophthalmic Research (Journal for Research in Experimental and Clinical Ophthalmology)

Vol. 37, No. 3, Year 2005 (Cover Date: May-June 2005)

Journal Editor: Pleyer, U. (Berlin)
ISSN: 0030–3747 (print), 1423–0259 (Online)

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


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 7/15/2005

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 3

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

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


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
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.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.