title: Bilateral macular holes and a new onset vitelliform lesion in Best disease.
abstract: Best vitelliform macular dystrophy (BVMD) is an autosomal dominant hereditary retinal disease caused by BEST1 gene mutations. Macular hole is a rare complication of BVMD. We are the first to report a BVMD case with bilateral macular holes and a new onset vitelliform lesion after a vitrectomy surgery.
  
  
  
  A woman with a history of BVMD suffered from a 1-year vision loss in both eyes. Complete ophthalmologic examinations and BEST1 gene screening were performed on the patient.
  
  
  
  Ophthalmoscopic examinations revealed bilateral macular holes with atrophic photoreceptors and retinal pigment epithelium (RPE). A disease-causing BEST1 mutation N296S (c.887A>G) was detected. A vitrectomy surgery with internal limiting membrane (ILM) peeling and gas tamponade was performed on the right eye. The macular hole closed and maintained stable for 1 year. A new extramacular vitelliform lesion was observed during the follow-up.
  
  
  
  Macular hole is an unusual but severe complication in the end stage of BVMD as the macular thinning is accompanied with vitreous traction. A vitrectomy surgery is effective to close the hole while further study is required to elucidate the pathophysiology of macular hole formation and the new vitelliform lesion in such a case.
authors.affiliation: a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
authors.forename: Jingshu
authors.initials: J
authors.lastname: Liu
authors.affiliation: a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Xuan
authors.affiliation: a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
authors.forename: Yongjin
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.affiliation: a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
authors.forename: Gezhi
authors.initials: G
authors.lastname: Xu
mesh_terms: D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics; D058450:Endotamponade; D019773:Epiretinal Membrane / Q000601:surgery; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012008:Recurrence; D012167:Retinal Perforations / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D013459:Sulfur Hexafluoride / Q000008:administration & dosage; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D014821:Vitrectomy
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D013459:Sulfur Hexafluoride
keywords: Best vitelliform macular dystrophy; macular hole; vitrectomy surgery