title: Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.
abstract: OBJECTIVE
  To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded.
  
  
  RESULTS
  Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased.
  
  
  CONCLUSIONS
  CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
authors: a Ocular Genetics, Wills Eye Institute , Philadelphia , PA , USA .
authors: Jose A
authors: JA
authors: Cordovez
authors: Elias I
authors: EI
authors: Traboulsi
authors: Jenina E
authors: JE
authors: Capasso
authors: Karthikeyan Arcot
authors: KA
authors: Sadagopan
authors: Anuradha
authors: A
authors: Ganesh
authors: Paul J
authors: PJ
authors: Rychwalski
authors: Kimberly A
authors: KA
authors: Neely
authors: Scott E
authors: SE
authors: Brodie
authors: Alex V
authors: AV
authors: Levin
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use; D000293:Adolescent; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008269:Macular Edema / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D058499:Retinal Dystrophies / Q000188:drug therapy / Q000235:genetics*; D012189:Retrospective Studies; D013449:Sulfonamides / Q000627:therapeutic use; D013876:Thiophenes / Q000627:therapeutic use; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C448939:CRB1 protein, human; D002257:Carbonic Anhydrase Inhibitors; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D013449:Sulfonamides; D013876:Thiophenes; C062765:dorzolamide; D000086:Acetazolamide
keywords: CRB1 mutation; Carbonic anhydrase inhibitors; intraretinal cystoid spaces; optical coherence tomography; retinal degeneration; visual acuity