Norrie Syndrome Brittany Irwin

Defined Rare recessive condition Mutation of the NDP gene Xp11.4 Fewer than 1 in 200,000 worldwide

Clinical Features Fibrous and Vascular Abnormalities –Affects both eyes equally Deterioration progresses from adolescences to adulthood Grayish-yellow masses behind each eye at birth

Clinical Features (continued) By 10 –Cataract formation –Corneal clouding –Reduction of anterior chamber –Shrinking of the globe –And other damage Complete blindness is common Less severe form Mental Retardation and hearing loss –35% to 50%

Diagnosis Point Mutation of NDP gene –70% SSCP DNA sequencing of the complete coding region of the NDP gene

Treatment No treatment can restore or prevent the loss of sight in sever cases Care is supportive and addresses specific symptoms Retinal Surgery may be beneficial in mild cases Hearing is monitored regularly –Hearing Aids Special education programs and counseling

References Pasternak, Jack J. Human Molecular Genetics. John Wiley and Sons, INC, 2005.