[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].
METHODS
We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization.


RESULTS
Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further refinement of the disease interval.


CONCLUSIONS
Our data confirm the genetic homogeneity and the extreme variability of expression, occasionally mimicking low tension glaucoma.
Hôpital Ophtalmique Jules Gonin, Lausanne.
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Lefèvre
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Hiroz
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Zografos
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Schorderet
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Munier
D000293:Adolescent; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers