Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome

ABSTRACT

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.

KEYWORDS:

• Alström syndrome
• carbonic anhydrase inhibitors
• ciliopathies
• optical coherence tomography
• retinal dystrophy

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the writing and content of this article.