Lattice Corneal Dystrophy Type IIIA With Hyaline Component From a Novel A620P Mutation and Distinct Surgical Treatments.

[]

The aim of this study was to report a lattice corneal dystrophy (LCD ) family with a novel mutation of A 620 P in the TGFBI gene , its long -term treatment , follow-up data , and related pathologic findings .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 .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 A 620 P 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 .We present the characteristics and surgical treatment of corneas with a novel A 620 P mutation in TGFBI showing LCD type IIIA with hyaline component .