Purpose: 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.Case report: 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).Conclusions: 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.
|Number of pages||5|
|Journal||European Journal of Ophthalmology|
|Publication status||Published - 2017|
All Science Journal Classification (ASJC) codes
Cillino, G., Cillino, S., Mazza, M., Santambrogio, S., Piozzi, E., Iggui, A., & Mazza, M. (2017). Carbonic anhydrase inhibitor with topical NSAID therapy to manage cystoid macular edema in a case of gyrate atrophy. European Journal of Ophthalmology, 27, e179-e183.