Corneal opacities in Gaucher disease.
OBJECTIVE
To describe the corneal findings in a variant of Gaucher disease.


METHODS
Case report. In an 18-year-old man, ophthalmic and general clinical evaluation, and enzymatic and molecular genetics studies were performed.


RESULTS
Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed through, out the posterior two thirds of the corneal stroma in both eyes. The patient had calcific valvular heart disease. Enzymatic and ultrastructural studies were consistent with Gaucher disease. Analysis of the glucocerebrosidase gene disclosed homozygosity for a D409H mutation.


CONCLUSIONS
Corneal opacities are a distinguishing ocular feature of the variant of Gaucher disease associated with the D409H mutation and with calcific cardiac disease.
Guemes
A
A
Eye Institute, The Cleveland Clinic Foundation, Ohio, USA.
Kosmorsky
G S
GS
Moodie
D S
DS
Clark
B
B
Meisler
D
D
Traboulsi
E I
EI
D000293:Adolescent; D001021:Aortic Valve / Q000473:pathology / Q000601:surgery; D002114:Calcinosis / Q000150:complications / Q000473:pathology / Q000601:surgery; D003318:Corneal Opacity / Q000150:complications* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology; D006349:Heart Valve Diseases / Q000150:complications / Q000473:pathology / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D008297:Male; D008943:Mitral Valve / Q000473:pathology / Q000601:surgery