Atypical Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy
| Autor: | David G. Hwang, Vivek S. Yellore, Anthony J. Aldave |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
Proband Pathology medicine.medical_specialty Buccal swab Mutation Missense Biology Arginine Cornea Transforming Growth Factor beta1 Exon Transforming Growth Factor beta medicine Humans Missense mutation Child Corneal Dystrophies Hereditary Tryptophan Corneal deposits medicine.disease eye diseases Pedigree Granular corneal dystrophy Ophthalmology medicine.anatomical_structure Mutation (genetic algorithm) Female sense organs |
| Zdroj: | Cornea. 22:754-759 |
| ISSN: | 0277-3740 |
| DOI: | 10.1097/00003226-200311000-00008 |
| Popis: | Purpose: To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor β-induced gene (TGFB1) associated with granular corneal dystrophy. Methods: DNA from affected patients and unaffected relatives was isolated from buccal swabs, and TGFB1 mutation screening was performed. Results: The proband and an affected daughter demonstrated rays of deposits emanating from a point in the inferior cornea of each eye in a "sea fan" or vortex pattern. Screening all 17 exons of TGFB1 in the proband identified a single missense mutation (C1710T) in exon 12, consistent with the diagnosis of granular corneal dystrophy. The identical mutation was identified in the affected daughter. Conclusions: In spite of the strict phenotype-genotype correlation reported for the TGFB1-associated corneal dystrophies, atypical clinical findings may be produced by previously identified, conserved mutations. |
| Databáze: | OpenAIRE |
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