Johns Hopkins Gazette: May 8, 1995

Discovery Solves Mystery of Inherited Disease

By Marc Kusinitz

     Johns Hopkins eye doctors have discovered the common cause
of dramatic damage to both the eyes and brains of babies born
with a rare inherited disease called incontinentia pigmenti. IP
can appear in many forms, such as lack of skin pigment, rash,
bald spots on the top of the scalp, missing or deformed teeth,
seizures and other mental disorders, and detached retinas,
bleeding into the eye and other eye disorders.

     The identification of this cause--blockage of small blood
vessels--solves a long-standing mystery about seemingly unrelated
symptoms, they say. And the discovery offers physicians a simple
routine eye test to identify IP in newborns, and in some cases
prevent blindness with prompt therapy. 

     The finding is reported in the May issue of Archives of
Pediatrics and Adolescent Medicine.

     "IP develops over the first few weeks of life," said  Morton
Goldberg, director of the Wilmer Eye Institute at Johns Hopkins.
"Blood vessels in the brain and retina close down, and the
tissues they feed die. The baby can develop epilepsy, mental
retardation, paralysis or spasticity (involuntary muscle
twitching), or blindness."

     According to Dr. Goldberg, quick treatment can sometimes
save the baby's sight. 

     "In some cases, we can slow retinal damage with a laser," he
said. "Or, if the retina has become detached from the back of the
wall, we can reattach it surgically."

     IP, which affects fewer than one in 200 newborns in the
United States, is an X-linked disorder. That is, it is inherited
from the mother on the X, or female, chromosome. The disease
often first appears in newborns as a simple rash that looks like
chicken pox. The rash disappears over several months' time. 

     Although some people never suffer further problems, others
later experience severe symptoms. 

     According to Dr. Goldberg, all patients diagnosed with IP
should quickly be seen by an ophthalmologist. In addition,
because severe brain damage is usually accompanied by serious
retinal damage, patients with severe retinal disease should also
be examined for the presence of brain damage.

     Using special imaging techniques, the Hopkins researchers
identified areas in the brains of seven patients with IP where
blood vessels were blocked. One technique called magnetic
resonance angiography, permits researchers to study blood vessels
in the brain. The other technique, MR spectroscopic imaging,
permits them to study various metabolites--breakdown products of

     The Hopkins team used SI to detect the presence of lactate,
which is formed by cells that are starved for oxygen. The
researchers found that the extent of blood vessel blockage in the
retina correlates with the severity of brain damage.

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