title: Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
abstract: OBJECTIVE
  To describe the clinical features of a case series of patients with unilateral vitelliform maculopathy and the results of screening BEST1 and PRPH2 for disease-causing mutations.
  
  
  METHODS
  This was a retrospective case series study of six patients ascertained over a 2-year period. Ophthalmological examination, fundus photography, autofluorescence imaging, optical coherence tomography and detailed electrophysiological assessment were undertaken. Blood samples were taken for DNA extraction and mutation screening of BEST1 and PRPH2 was performed.
  
  
  RESULTS
  Six patients (3 men and 3 women) with unilateral vitelliform maculopathy were identified, ranging in age from 30 to 68 years. Vision in the affected eye ranged from 20/10 to 20/100. There was no clinical, retinal imaging or electrophysiological evidence of fellow eye involvement. Direct sequencing of BEST1 and PRPH2 did not reveal any disease-causing variants.
  
  
  CONCLUSIONS
  A case series of patients is reported with an unusual unilateral vitelliform phenotype, often associated with good visual function. The patients do not have the typical characteristics associated with age-related maculopathy or any inherited macular disorders, such as Best vitelliform macular dystrophy. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations.
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
authors.forename: Mala
authors.initials: M
authors.lastname: Subash
authors.forename: Tryfonas
authors.initials: T
authors.lastname: Rotsos
authors.forename: Genevieve A
authors.initials: GA
authors.lastname: Wright
authors.forename: Sophie
authors.initials: S
authors.lastname: Devery
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.forename: Bishwanath
authors.initials: B
authors.lastname: Pal
authors.forename: Adnan
authors.initials: A
authors.lastname: Tufail
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
mesh_terms: D000328:Adult; D000368:Aged; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins