PURPOSE: Meesmann dystrophy is a rare inherited corneal disease. This is the description of a unique family in Denmark. METHODS: The family members were examined by biomicroscopy. Blood samples were collected. DNA from the leukocyte population was isolated, and the cytokeratin 12 (KRT12) gene was partially sequenced. RESULTS: This Danish family harbors a 451G-->T mutation. All patients in this family that harbor mutations also show microcysts, but none have any symptoms. CONCLUSIONS: This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic.
PURPOSE:Meesmann dystrophy is a rare inherited corneal disease. This is the description of a unique family in Denmark. METHODS: The family members were examined by biomicroscopy. Blood samples were collected. DNA from the leukocyte population was isolated, and the cytokeratin 12 (KRT12) gene was partially sequenced. RESULTS: This Danish family harbors a 451G-->T mutation. All patients in this family that harbor mutations also show microcysts, but none have any symptoms. CONCLUSIONS: This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic.
Authors: Jacek P Szaflik; Monika Ołdak; Radosław B Maksym; Anna Kamińska; Agnieszka Pollak; Monika Udziela; Rafał Płoski; Jerzy Szaflik Journal: Mol Vis Date: 2008-09-15 Impact factor: 2.367
Authors: Judy L Chen; Benjamin R Lin; Katherine M Gee; Jessica A Gee; Duk-Won D Chung; Ricardo F Frausto; Sophie X Deng; Anthony J Aldave Journal: Mol Vis Date: 2015-12-31 Impact factor: 2.367
Authors: Pham Ngoc Dong; Le Xuan Cung; Tran Khanh Sam; Do Thi Thuy Hang; Doug D Chung; Turad A Alkadi; Arjun Buckshey; Junwei Zhang; Alexa Kassels; Anthony J Aldave Journal: Case Rep Ophthalmol Date: 2020-03-17