In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy

ConclusionWe identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in theKRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity. AS-OCT and IVCM proved to be useful tools for observing corneal epithelial layer pathology in this dystrophy. Furthermore, IVCM reveals corneal stromal layer pathological changes not previously reported in this dystrophy.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research