Pierson Syndrome

Background and History: 

This is a congenital syndrome of neurological deficits, severe kidney disease, and eye abnormalities first described in the French literature by M. Pierson in 1963. 

Clinical Correlations: 

Infants are born with serious and progressive kidney disease.  It is not uncommon for the kidneys to fail within a few weeks to months after birth.  There is considerable variation in the signs and symptoms of this disease and some  patients do not have kidney failure until adulthood.  There are also neurological deficits and psychomotor retardation so that many children never achieve normal milestones such as sitting, standing, and talking.  There are also serious eye problems such as cataracts, glaucoma, and retinal detachments and blindness sometimes occurs.  Most infants are born with small pupils which do not dilate spontaneously.  The retina (seeing tissue of the eye) is thinner than normal and detaches easily.  Some individuals have muscle weakness and poor tone. 


This is an autosomal recessive disorder which occurs when two normal parents each contribute a mutation to their child.  Such parents have a 25% risk for this disease for each subsequent child. 

Diagnosis and Prognosis: 

Pierson syndrome carries a serious prognosis because of the eventual failure of the kidneys.  A kidney transplant could restore function but the severe neurological impairment may not justify such a procedure.  Cataract and retinal detachment surgery may be indicated in select cases.  Glaucoma needs to be treated.  The diagnosis is usually made by ophthalmologists and pediatricians.  A kidney specialist is important to the care of such patients.  Lifelong monitoring is required but some children may not live beyond the first decade of life. 

Additional Information
Autosomal recessive