학술논문
Corneal Decompensation in Recessive Cornea Plana.
Document Type
Article
Author
Source
Subject
*CORNEA
*GENETIC mutation
*CONVERGENT strabismus
*CELLS
*VISUAL acuity
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Language
ISSN
1381-6810
Abstract
Purpose: To report corneal decompensation in 3 patients with recessive cornea plana. Methods: Retrospective case series. Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation. [ABSTRACT FROM AUTHOR]