Abstract:
PURPOSE:To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD). METHODS:Detailed ophthalmologic analysis was carried out on a Bulgarian woman, enrolled for perforating keratoplasty. In order to obtain a final diagnosis both histology and genetic analysis were performed. RESULTS:Upon transplantation, histologic analysis of the dystrophic cornea revealed the typical staining pattern and amyloid deposits of lattice corneal dystrophies. Genetic analysis of the subject and her daughter confirmed the presence of an autosomal dominant R124C mutation within exon 4 of the BIGH3 gene, encoding for keratoepithelin, while showing no abnormalities in her son. CONCLUSIONS:The identification of this mutation allows the unambiguous classification of this corneal dystrophy as LCD type I. A first case of LCD I in a family from Eastern Europe could help to better clarify the molecular epidemiology of the disease.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Capoluongo E,De Benedetti G,Concolino P,Sepe M,Ambu R,Faa G,Sciandra F,Santonocito C,D'Alberto A,Caselli M,Brancaccio Adoi
10.1177/112067210501500624subject
Has Abstractpub_date
2005-11-01 00:00:00pages
804-8issue
6eissn
1120-6721issn
1724-6016journal_volume
15pub_type
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