Congenital glaucoma associated with an arginase deficit: a case report.

PURPOSE: Argininemia is a rare congenital disease caused by deficiency. We present here a case in which argininemia and buphthalmos are associated.

CASE REPORT: This female patient, who died at eighteen, had intraocular pressure correlated with her blood levels or arginine. Hyperammoniemia causes a change in pH that could explain an increase in aqueous humor (from the ciliary body). Ammonium ions could also damage the matrix of the trabecular meshwork.

CONCLUSIONS

The association of argininemia and buphthalmos have never been described. This might be because of the different expressions of the disease, or because nobody has ever looked for ocular hypertension in these patients unless they had subjective symptoms.