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Table of Contents
Vol. 181, No. 6, 1980
Issue release date: 1980
Section title: Original Paper
Ophthalmologica 1980;181:301–313
(DOI:10.1159/000309068)

Inheritance of Endothelial Dystrophy of the Cornea

Krachmer J.H.a · Bucher K.D.b · Purcell J.J., Jr.a · Young C.W.a
aIowa Lions Cornea Center, Department of Ophthalmology, and bDepartment of Preventive Medicine, University of Iowa, Iowa City, Iowa, USA

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 18, 1980
Accepted: September 22, 1980
Published online: March 30, 2010
Issue release date: 1980

Number of Print Pages: 13
Number of Figures: 0
Number of Tables: 0

ISSN: 0030-3755 (Print)
eISSN: 1423-0267 (Online)

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

Abstract

64 families containing a proband with corneal endothelial dystrophy were examined in order to study the hereditary nature of the disease. Data concerning the frequency of occurrence, severity of the disease, ratio of affected females to males, relationship of the disease with age, and other factors were the subject of a previous report. 7 pedigrees which reflect features of endothelial dystrophy within the 64 families are presented. These features include multiple females in a family being affected, multiple consecutively affected generations, the occurrence of offspring with disease more severe than the parent, and endothelial decompensation (edema) at a relatively young age (less than 40 years of age). The importance of examining family members whenever possible rather than relying on history alone is emphasized. A statistical analysis of the inheritance pattern was performed. Endothelial dystrophy does not seem to follow a strict autosomal dominant pattern even though superficial inspection suggests autosomal dominant inheritance (both males and females affected, successive generations affected, 38% of relatives over the age of 40 years affected). Even though we were unable to determine a specific genetic mode of inheritance in these 64 families with endothelial dystrophy, we do feel that endothelial dystrophy is at least in part an inherited disease. Future investigations might prove sex-linked dominance, genetic heterogeneity, the influence of environmental factors, or a multifactorial etiology.

© 1980 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 18, 1980
Accepted: September 22, 1980
Published online: March 30, 2010
Issue release date: 1980

Number of Print Pages: 13
Number of Figures: 0
Number of Tables: 0

ISSN: 0030-3755 (Print)
eISSN: 1423-0267 (Online)

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


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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 government 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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