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Case Reports
Journal Article
Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.
Ophthalmic Genetics 2016 December
BACKGROUND: Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported.
METHODS: A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed.
RESULTS: Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve.
CONCLUSIONS: Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.
METHODS: A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed.
RESULTS: Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve.
CONCLUSIONS: Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.
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