Retinal degeneration associated with BBS

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:

• (1) Beales, P. L., et al. "New Criteria for Improved Diagnosis of Bardet-Biedl Syndrome: Results of a Population Survey." Journal of Medical Genetics 36 (1999): 437-446