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Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI
- Source :
- Cornea. 36(2)
- Publication Year :
- 2017
-
Abstract
- Purpose To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). Methods A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed. Results Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the 8 affected individuals in the Mexican family and 4 of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a "sea fan" or vortex pattern of superficial stromal corneal deposits originating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation [p.(Arg555Trp)] in exon 12, confirming the diagnosis of GCD1. Conclusions Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Heterozygote
Adolescent
Corneal Stroma
DNA Mutational Analysis
Mutation, Missense
Biology
Polymerase Chain Reaction
Article
03 medical and health sciences
Exon
Young Adult
0302 clinical medicine
Corneal Opacity
Gene Frequency
Transforming Growth Factor beta
Cornea
medicine
Missense mutation
Humans
Child
Mexico
Corneal epithelium
Aged, 80 and over
Corneal Dystrophies, Hereditary
Extracellular Matrix Proteins
Slit Lamp
Heterozygote advantage
Middle Aged
medicine.disease
Phenotype
eye diseases
Pedigree
Granular corneal dystrophy
Ophthalmology
030104 developmental biology
medicine.anatomical_structure
Italy
030221 ophthalmology & optometry
Female
TGFBI
Subjects
Details
- ISSN :
- 15364798
- Volume :
- 36
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Cornea
- Accession number :
- edsair.doi.dedup.....3ef0b00965b6ce2a832d1ea58c909f6b