TY - JOUR
T1 - The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies
T2 - A Histopathologic Study
AU - Folberg, Robert
AU - Stone, Edwin M.
AU - Sheffield, Val C.
AU - Mathers, William D.
PY - 1994/8
Y1 - 1994/8
N2 - Three stromal corneal dystrophies (granular, lattice type l, and Avellino) were recently mapped to a single locus on chromosome 5. This study was conducted to determine if there is histologic evidence to support the allelic relationship suggested by the genetic studies. We examined 23 corneal buttons from the two families with lattice dystrophy and 13 corneal buttons from the two families with granular dystrophy who were involved in the chromosomal linkage studies. In the two families with clinically typical granular dystrophy, one corneal button also contained focal amyloid deposits. In both families with clinically typical lattice dystrophy type 1, we found evidence of granular deposits. The genetic linkage studies demonstrate only that the disease-causing mutations for these three stromal dystrophies share the same genetic locus. However, the evidence of histologic overlap strongly suggests that these dystrophies are caused by mutations within the same gene.
AB - Three stromal corneal dystrophies (granular, lattice type l, and Avellino) were recently mapped to a single locus on chromosome 5. This study was conducted to determine if there is histologic evidence to support the allelic relationship suggested by the genetic studies. We examined 23 corneal buttons from the two families with lattice dystrophy and 13 corneal buttons from the two families with granular dystrophy who were involved in the chromosomal linkage studies. In the two families with clinically typical granular dystrophy, one corneal button also contained focal amyloid deposits. In both families with clinically typical lattice dystrophy type 1, we found evidence of granular deposits. The genetic linkage studies demonstrate only that the disease-causing mutations for these three stromal dystrophies share the same genetic locus. However, the evidence of histologic overlap strongly suggests that these dystrophies are caused by mutations within the same gene.
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U2 - 10.1001/archopht.1994.01090200086027
DO - 10.1001/archopht.1994.01090200086027
M3 - Article
C2 - 8053822
AN - SCOPUS:0027963541
SN - 0003-9950
VL - 112
SP - 1080
EP - 1085
JO - Archives of ophthalmology
JF - Archives of ophthalmology
IS - 8
ER -