Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments
| Autor: | Eun Min Kang, Hyun Soo Cho, Sang Ah Kim, Tae Im Kim, Ji Won Jung, Eung Kweon Kim |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty medicine.medical_treatment DNA Mutational Analysis Visual Acuity Biology Photorefractive Keratectomy Masson's trichrome stain Corneal Transplantation Immunoenzyme Techniques Phototherapeutic keratectomy Exon Transforming Growth Factor beta medicine Humans Codon Hyaline Corneal Dystrophies Hereditary Extracellular Matrix Proteins Gene Amplification Dystrophy Exons Middle Aged medicine.disease eye diseases Recurrent corneal erosion Pedigree Ophthalmology Mutation Lattice corneal dystrophy Female Keratoplasty Penetrating TGFBI |
| Zdroj: | Cornea. 33(12) |
| ISSN: | 1536-4798 |
| Popis: | PURPOSE The aim of this study was to report a lattice corneal dystrophy (LCD) family with a novel mutation of A620P in the TGFBI gene, its long-term treatment, follow-up data, and related pathologic findings. METHODS A total of 28 family members were clinically examined, and blood samples or buccal epithelial cells were taken for DNA analysis. All exons from the entire TGFBI gene coding region were analyzed for mutations in 3 affected members. Exon 14 was amplified in other family members and in 100 normal Korean persons as control. Corneal tissues from 1 affected family member were examined using light and electron microscopy. RESULTS Clinical examination revealed relatively late-onset LCD with asymmetric progression and recurrent corneal erosion. The affected family members have been treated with penetrating keratoplasty, deep lamellar keratoplasty, and phototherapeutic keratectomy for up to 19 years. Screening of the TGFBI gene revealed a novel A620P mutation, which was found in all affected members. The amyloid origin of deposits was confirmed by Congo red and was also partially stained with Masson trichrome. Although there were no electron-dense bodies as in granular dystrophy, transmission electron microscopy demonstrated that the stromal deposits were not homogenous and contained a variety of constituents with different electron densities. CONCLUSIONS We present the characteristics and surgical treatment of corneas with a novel A620P mutation in TGFBI showing LCD type IIIA with hyaline component. |
| Databáze: | OpenAIRE |
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