Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern.
We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME).
The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.
Eur J Ophthalmol 2017; 27(6): e179 - e183
Article Type: CASE REPORT
AuthorsElena Piozzi, Salvatore Alessi, Silvia Santambrogio, Giovanni Cillino, Marco Mazza, Aissa Iggui, Salvatore Cillino
- • Accepted on 20/06/2017
- • Available online on 08/07/2017
- • Published online on 08/11/2017
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- Piozzi, Elena [PubMed] [Google Scholar] 1
- Alessi, Salvatore [PubMed] [Google Scholar] 2
- Santambrogio, Silvia [PubMed] [Google Scholar] 1
- Cillino, Giovanni [PubMed] [Google Scholar] 2
- Mazza, Marco [PubMed] [Google Scholar] 1
- Iggui, Aissa [PubMed] [Google Scholar] 2
- Cillino, Salvatore [PubMed] [Google Scholar] 2, * Corresponding Author (firstname.lastname@example.org)
Pediatric Ophthalmology Unit, Niguarda Ca’Granda Metropolitan Hospital, Milan - Italy
Ophthalmology Section, Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo - Italy