Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome

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.

A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed.

Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve.

Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.