Nail-Patella Syndrome

Reviewed by Sayoko E. Moroi, M.D., Ph.D. and Joshua D. Stein, M.D., M.S.

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What Is Nail-Patella Syndrome?

Nail-Patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails, kidneys, and glaucoma. NPS is characterized by absent or under-developed kneecaps and thumbnails. It is estimated to occur in 1 in 50,000 newborns.

Symptoms

  • Loss of peripheral (side) vision
  • Blind spots
  • Need for frequent changes in glasses
  • Difficulty in adjusting to a dark room
  • Blurred vision
  • Sore, reddened eyes
  • Appearance of halos or rainbows around lights
  • Severe headaches, nausea and eye pain in rare cases

Causes

Nail-Patella Syndrome is caused by the alteration, or mutation, of a gene that makes a protein necessary for normal development of the limbs, eyes, and kidneys.

Treatment and Drugs

The treatment for NPS and glaucoma depends upon the severity of each case. In general, glaucoma cannot be cured, but it can be controlled. Glaucoma medications (either eye drops or pills), laser procedures, and surgical operations are used to slow further damage from occurring. With any type of glaucoma, periodic examinations are very important to prevent vision loss. Because glaucoma can worsen without your being aware of it, treatment may need to be changed over time.

Clinic Information

For more information, see the Glaucoma, Cataract, & Anterior Segment Disease Clinic and the complete Clinic Services listing of the U-M Kellogg Eye Center.

Last Modified: Wednesday, 19-Feb-2014 08:42:44 EST