The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study

Robert Folberg; Edwin M Stone; Val C Sheffield; William D Mathers

doi:10.1001/archopht.1994.01090200086027

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The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study

Journal article

Peer reviewed

The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study

Robert Folberg, Edwin M Stone, Val C Sheffield and William D Mathers

Archives of ophthalmology (1960), Vol.112(8), pp.1080-1085

08/1994

DOI: 10.1001/archopht.1994.01090200086027

PMID: 8053822

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Abstract

Three stromal corneal dystrophies (granular, lattice type 1, 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.

Mutation

Chromosome Aberrations - pathology

Humans

Corneal Dystrophies, Hereditary - genetics

Male

Chromosome Disorders

Chromosomes, Human, Pair 5

Corneal Dystrophies, Hereditary - pathology

Chromosome Aberrations - genetics

Pedigree

Alleles

Corneal Stroma - pathology

Female

Genetic Linkage

Details

Title: Subtitle: The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study
Creators: Robert Folberg - Department of Ophthalmology, University of Iowa, Iowa City
Edwin M Stone
Val C Sheffield
William D Mathers
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.112(8), pp.1080-1085
DOI: 10.1001/archopht.1994.01090200086027
PMID: 8053822
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: HG00457 / NHGRI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 08/1994
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980390902771

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