Significant Macular Edema in a Patient With Cone Dystrophy and Improvement With Acetazolamide Treatment

Abstract

Patients with cone dystrophy can accumulate intraretinal edema in the macula, which may respond to carbonic anhydrase therapy.

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

“…The use of carbonic anhydrase inhibitor (CAI) in the preservation of retinal architecture, delaying visual decline, and atrophic maculopathy has been employed in different hereditary retinal dystrophies, resulting in variable success. [ 31 32 ] Studies on CAI on CORD-related MC are few but encouraging, with a case report showing efficacy and complete resolution of bilateral cystic maculopathy after treatment with topical dorzolamide. [ 33 ] Further studies are required to ascertain its efficacy in CORD.…”

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7

“…11 By contrast, CMO appears to be relatively rare in CORD. [12][13][14] The reason for this disparity is unknown. In our case, rods were significantly affected in addition to cones, therefore perhaps rod dysfunction is required for CMO in retinal dystrophy.…”

“…However CMO has been reported in a case of clinically diagnosed CORD where rod-isolated ERG responses were within normal limits. 13 Treatment with carbonic anhydrase inhibitors, steroids, anti-vascular endothelial growth factor agents, photocoagulation and vitrectomy have been trialled with variable success in retinitis pigmentosa. 11 A recent case report of cone-rod dystrophy in a child with Alstrom syndrome found complete resolution of bilateral CMO following one month of treatment with topical dorzolamide.…”