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Retinal degeneration associated with BBS

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Retinal Degeneration with BBS

  • most common visual defect in BBS is "Red-Cone" dystrophy which is an atypical form of retinitis pigmentosa. Red-Cone dystrophy is diagnosed in 93% of BBS patients with most of them going blind before the age of thirty (1)
    • average age of registered blindness was 15.5 years making the retinitis pigmentosa in BBS far more rapid than in typical isolated retinitis pigmentosa
    • other ocular defects included:
      • astigmatism
      • strabismus
      • cataracts
      • colour blindness
      • macular degeneration
      • optic atrophy

Reference:

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