Corneal decompensation in recessive cornea plana.
OBJECTIVE
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.
Khan
Arif O
AO
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
Aldahmesh
Mohammed A
MA
Al-Gehedan
Saeed
S
Meyer
Brian F
BF
Meyer
Brain F
BF
Alkuraya
Fowzan S
FS
D002648:Child; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics; D012189:Retrospective Studies
C490948:KERA protein, human; D011509:Proteoglycans