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Gian-Marco Sarra, MD; Maike Weigell-Weber, MD; Dieter Kotzot, MD; Günter Niemeyer, MD; Elmar Messmer, MD; Martin Hergersberg, PhD

Arch Ophthalmol. 2003;121:1109-1116.

Objectives  To describe the clinical phenotype of a novel autosomal recessively inherited vitreoretinal dystrophy in one generation of a family originating from eastern Switzerland.

Methods  A clinical study including electroretinographic investigations followed by laboratory-based genetic and molecular analysis. Four affected and 3 unaffected members of the family were examined. Ten candidate regions were tested by linkage analysis with highly polymorphic molecular markers or with intragenic restriction fragment length polymorphisms.

Results  Of 8 siblings,4 were affected, showing high myopia with pronounced vitreous liquefaction, retinitis pigmentosa–like retinal degeneration, diffuse retinal pigment epithelium atrophy, macular staphylomata, and premature cataract formation. Strikingly abnormal results on electroretinograms, affecting both the rod and the cone systems, revealed an extensive defect of retinal function, unlike those usually found in pathologic myopia. No extraocular manifestations were observed. Three types of nonsyndromic high myopia, Stickler syndrome I, II, and III, Wagner syndrome, Knobloch syndrome, Goldmann-Favre dystrophy, and multiple vitreoretinopathies were excluded by linkage analysis.

Conclusions  The reported phenotype as well as the results of molecular linkage analysis in the siblings described here suggest an autosomal recessively inherited vitreoretinal dystrophy, which, to our knowledge, has not been described until now.

From the Department of Ophthalmology, University Hospital Zurich (Drs Sarra, Niemeyer, and Messmer); Institute of Medical Genetics, University of Zurich (Drs Weigell-Weber and Hergersberg), Zurich, Switzerland; and the Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria (Dr Kotzot). Dr Sarra is currently affiliated with the Department of Ophthalmology, Inselspital, Bern, Switzerland; Dr Messmer with the Department of Ophthalmology, Stadtspital Triemli, Zurich; and Dr Hergersberg with Zentrum für Labormedizin, Aarau, Switzerland. The authors have no relevant financial interest in this article.

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Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy
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