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Published on: November 22, 2024
Corneal decompensation in recessive cornea plana
Arif O Khan1, Mohammed A Aldahmesh, Saeed Al-Gehedan
1Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
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.
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