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Congenital glaucoma associated with an arginase deficit: a case report
S C Saccà1, P Campagna, G Ciurlo
1Department of Ophthalmology, University Eye Clinic, Genova, Italy.
European Journal of Ophthalmology
|October 1, 1996
Summary
Argininemia, a rare urea cycle disorder, is linked to buphthalmos (enlarged eye) in a unique case. This suggests a potential connection between hyperammoniemia and increased intraocular pressure in affected individuals.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Argininemia is a rare autosomal recessive metabolic disorder resulting from arginase deficiency, leading to hyperammoniemia.
- Urea cycle disorders (UCDs) are associated with significant neurological complications, but ocular manifestations are rarely reported.
Observation:
- A female patient with argininemia presented with buphthalmos, characterized by elevated intraocular pressure.
- Intraocular pressure in this patient correlated with blood arginine levels and episodes of hyperammoniemia.
- The proposed mechanism involves pH changes due to hyperammoniemia affecting aqueous humor production and ammonium ion-induced damage to the trabecular meshwork.
Findings:
- This case report describes the first documented association between argininemia and buphthalmos.
- The findings suggest a potential link between hyperammoniemia and the development of ocular hypertension in argininemia patients.
- The correlation between arginine levels and intraocular pressure highlights a possible direct or indirect pathogenic mechanism.
Implications:
- This association may prompt ophthalmological screening in patients diagnosed with argininemia, even in the absence of subjective ocular symptoms.
- Further research is warranted to elucidate the precise pathophysiological mechanisms linking argininemia and buphthalmos.
- Understanding this connection could lead to novel therapeutic strategies for managing ocular complications in UCDs.