Transcript Norrie Syndrome - Bellarmine University

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
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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.