6533b86ffe1ef96bd12cd3a1
RESEARCH PRODUCT
Carbonic anhydrase inhibitor with topical NSAID therapy to manage cystoid macular edema in a case of gyrate atrophy
Marco MazzaAissa IgguiElena PiozziSalvatore CillinoSalvatore AlessiGiovanni CillinoSilvia Santambrogiosubject
OrnithinePathologygenetic structuresIndomethacinVisual AcuityAdministration OralAdministration Ophthalmic0302 clinical medicineNonsteroidal anti-inflammatory drugCarbonic anhydrase inhibitorCarbonic Anhydrase Inhibitorschemistry.chemical_classificationOrnithine-Oxo-Acid TransaminaseAnti-Inflammatory Agents Non-SteroidalGeneral Medicinemedicine.anatomical_structureDrug Therapy CombinationFemaleTomography Optical CoherenceHumanmedicine.medical_specialtyAdolescentCarbonic Anhydrase Inhibitormedicine.drug_classOrnithine aminotransferaseeducationGyrate atrophy of the choroid and retinaOphthalmic Solution03 medical and health sciencesAtrophyGyrate atrophyInternal medicinemedicineHumansGyrate AtrophyMacular edemaRetinaMacular edemabusiness.industrymedicine.diseaseAcetazolamideOphthalmologyEnzymeEndocrinologychemistry030221 ophthalmology & optometrysense organsChoroidOphthalmic Solutionsbusiness030217 neurology & neurosurgerydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-07-15 |