← 返回搜尋

Familial exudative vitreoretinopathy

ORPHA:891 · Disease · Disorder

HPO 表現型（共 27 項）

Obligate (100%)(1)

  • VitreoretinopathyHP:0007773

Very frequent (99-80%)(1)

  • Avascular peripheral retinaHP:0007685

Frequent (79-30%)(6)

  • Abnormal optic disc morphologyHP:0012795
  • Falciform retinal foldHP:0001493
  • Reduced visual acuityHP:0007663
  • Retinal neovascularizationHP:0030666
  • Subretinal fluidHP:0031526
  • Tractional retinal detachmentHP:0007917

Occasional (29-5%)(19)

  • BlindnessHP:0000618
  • CataractHP:0000518
  • Chorioretinal atrophyHP:0000533
  • Epiretinal membraneHP:0100014
  • Hearing impairmentHP:0000365
  • LymphedemaHP:0001004
  • Macular edemaHP:0040049
  • Macular exudateHP:0030496
  • Macular telangiectasiaHP:0030503
  • MicrocephalyHP:0000252
  • MicrophthalmiaHP:0000568
  • Mild global developmental delayHP:0011342
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • Reduced bone mineral densityHP:0004349
  • Rhegmatogenous retinal detachmentHP:0012230
  • Severely reduced visual acuityHP:0001141
  • Vitreous floatersHP:0100832
  • Vitreous hemorrhageHP:0007902