Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.
OBJECTIVE
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.
Sarra
Gian-Marco
GM
Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
Weigell-Weber
Maike
M
Kotzot
Dieter
D
Niemeyer
Gunter
G
Messmer
Elmar
E
Hergersberg
Martin
M
D000368:Aged; D001284:Atrophy; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000235:genetics*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics; D058609:Visual Field Tests; D014794:Visual Fields; D014822:Vitreous Body / Q000473:pathology*
D005819:Genetic Markers