title: Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.
abstract: 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.
  
  
  
  A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed.
  
  
  
  Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve.
  
  
  
  Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.
authors.affiliation: a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
authors.forename: Paula
authors.initials: P
authors.lastname: Larrañaga-Fragoso
authors.affiliation: a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
authors.forename: Natalia
authors.initials: N
authors.lastname: Pastora
authors.affiliation: a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.|b Ophthalmology Department , Hospital Clínico San Borja Arriarán , Santiago , Chile.
authors.forename: Luciano
authors.initials: L
authors.lastname: Bravo-Ljubetic
authors.affiliation: a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Peralta
authors.affiliation: a Pediatric Ophthalmology Department , Hospital Universitario La Paz , Madrid , Spain.
authors.forename: José
authors.initials: J
authors.lastname: Abelairas-Gómez
mesh_terms: D000287:Administration, Topical; D056769:Alstrom Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D018797:Cell Cycle Proteins; D005260:Female; D006801:Humans; D007223:Infant; D008269:Macular Edema / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D009883:Ophthalmic Solutions; D011506:Proteins / Q000235:genetics; D013449:Sulfonamides / Q000627:therapeutic use*; D013876:Thiophenes / Q000627:therapeutic use*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: C490729:ALMS1 protein, human; D002257:Carbonic Anhydrase Inhibitors; D018797:Cell Cycle Proteins; D009883:Ophthalmic Solutions; D011506:Proteins; D013449:Sulfonamides; D013876:Thiophenes; C062765:dorzolamide
keywords: Alström syndrome; carbonic anhydrase inhibitors; ciliopathies; optical coherence tomography; retinal dystrophy