PURPOSE: Recently several autosomal dominant corneal stromal dystrophi
es have been mapped to chromosome 5q. Therefore, we tested whether Rei
s-Bucklers' corneal dystrophy, an autosomal dominant trait, was also l
inked to the same region. METHODS: Five generations of a single family
with Reis-Bucklers' corneal dystrophy were ascertained. rained, Twent
y-two family members were examined, and 11 were found to be affected.
Blood was obtained for genetic linkage analysis. RESULTS: Several gene
tic markers on chromosome 5q were strongly suggestive of linkage or co
nfirmed linkage (LOD score > 3.0). Multipoint analysis generated a max
imum LOD score of 4.25 between D5S414 and IL-9. CONCLUSIONS: Reis-Buck
lers', lattice type 1, Avillino, and granular corneal dystrophies all
map to the same genetic locus. This suggests that one of the following
might be true: (1) that a corneal gene family exists in this region;
(2) that these corneal dystrophies represent allelic heterogeneity (th
at is, different mutations within the same gene manifest as different
phenotypes); or (3) that these are all the same disease.