Cystic macular lesions frequently contribute to impaired visual acuity in hereditary retinal dystrophies. Their pathogenesis varies and is not entirely understood. Carbonic anhydrase inhibitors have proven to be potentially efficacious, although not in all cases. We discuss the various factors and mechanisms implicated in the etiology of cystic macular lesions (anatomical abnormalities, impairment of the blood-retinal barrier, tangential vitreous traction, and mutations in retinoschin, etc.) and the various treatments that have been proposed.
Keywords: Goldmann-Favre syndrome; X-linked retinoschisis; choroideremia; cystoid macular lesions; enhanced S-cone syndrome; gyrate atrophy; hereditary retinal dystrophies; retinitis pigmentosa.
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