title: Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy.
abstract: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management.
  
  
  
  Observational case report.
  
  
  
  A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation.
  
  
  
  The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.
authors.forename: Rita
authors.initials: R
authors.lastname: Matos
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Beato
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.
authors.forename: Marta
authors.initials: M
authors.lastname: Silva
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.
authors.forename: Sérgio
authors.initials: S
authors.lastname: Silva
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.
authors.forename: Elisete
authors.initials: E
authors.lastname: Brandão
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.|b Department of Sense Organs, Faculty of Medicine , University of Porto , Porto , Portugal.
authors.forename: Fernando
authors.initials: F
authors.lastname: Falcão-Reis
authors.affiliation: a Department of Ophthalmology , Centro Hospitalar São João , Porto , Portugal.|b Department of Sense Organs, Faculty of Medicine , University of Porto , Porto , Portugal.
authors.forename: Susana
authors.initials: S
authors.lastname: Penas
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use*; D000068258:Bevacizumab / Q000627:therapeutic use*; D003131:Combined Modality Therapy; D005122:Exudates and Transudates; D005451:Fluorescein Angiography; D006801:Humans; D058449:Intravitreal Injections; D017075:Laser Coagulation; D008269:Macular Edema / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D058456:Retinal Telangiectasis / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D041623:Tomography, Optical Coherence; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity
chemical_list: D020533:Angiogenesis Inhibitors; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab
keywords: Facioscapulohumeral muscular dystrophy; fluorescein angiography; laser photocoagulation; macular edema; optical coherence tomography; retinal telangiectasia; vascular endothelial growth factor