title: Macular cysts in retinal dystrophy.
abstract: OBJECTIVE
  To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management.
  
  
  RESULTS
  Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies. These must be distinguished from CME. Optical coherence tomography can clearly demonstrate intraretinal cysts which may not be clinically detectable. Intravenous fluorescein angiography (IVFA) does not show macular hyperfluorescence (i.e. leakage). Molecular genetic testing aids in the diagnosis and elucidation of pathophysiology. Carbonic anhydrase inhibitors may promote resolution of the cysts resulting in visual improvement.
  
  
  CONCLUSIONS
  Non-CME macular cysts in retinal dystrophies can be differentiated from CME by a combination of clinical examination, IVFA, and molecular genetic testing to identify causative phenotype. Carbonic anhydrase inhibitors may be effective in promoting resolution.
authors: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania 19107-5109, USA.
authors: Anuradha
authors: A
authors: Ganesh
authors: Eliza
authors: E
authors: Stroh
authors: George J
authors: GJ
authors: Manayath
authors: Sana
authors: S
authors: Al-Zuhaibi
authors: Alex V
authors: AV
authors: Levin
mesh_terms: D001813:Blood-Retinal Barrier; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D003560:Cysts / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D005820:Genetic Testing; D006801:Humans; D008269:Macular Edema / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D057093:Orphan Nuclear Receptors / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D058499:Retinal Dystrophies / Q000150:complications* / Q000175:diagnosis*; D041441:Retinoschisis / Q000150:complications / Q000175:diagnosis*; D041623:Tomography, Optical Coherence
chemical_list: D002257:Carbonic Anhydrase Inhibitors; C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors