Norrie
Disease
the NDP gene, which
provides instruction for
making the protein
norrin.
Description



Norrie is an inherited
eye disorder that leads to
blindness in male
infants; usually at birth,
or shortly thereafter.
Light and color sensory
cells collect at the back
of the eye with masses
of immature retinal cells
and cause the retina to
develop abnormally.
Individuals with this
disorder have pupils that
appear white in the light,
this is a condition called
“leukocoria.” The pupils
or the entire eyeball may
shrink or deteriorate
during the first few
months of a child’s life.
In some cases of the
disease, progressive
hearing loss and delayed
motor skill development, such as sitting and
walking, is seen. Also,
mild to moderate
intellectual disability
with psychosis are seen.

Atrophia bulborum
hereditaria
Fetal iritis Syndrome
Oligophrenia
Microphthalmus
Whitnall-Norman
Syndrome
Episkopi Blindness
Diagnosis
If the symptoms a child
has suggest Norrie
disease, an eye doctor
will examine the child's
eyes. If Norrie disease is
present, the
ophthalmologist will see
an abnormal retina at the
back of the eye. The
diagnosis can also be
confirmed by genetic
testing for mutation of
the NDP gene on the X
chromosome.
Treatment
Who is
Affected?
Norrie is a rare disorder
and the exact incidence
of it is unknown. It is
not associated with any
particular race or ethnic
group. This disease is
caused by a mutation in

Other
Descriptors:

Anderson-Warburg
Syndrome
There is no specific
treatment for Norrie
disease and no way to
stop or reverse the
loss of vision and
possibly hearing.
Medical treatment
may be needed for
other problems the
disease may cause,
such as with breathing
or digestion.
Sources:
MedPedia –
http://wiki.Medpedia.com
NORD –National Org. For Rare
Diseases; http://rarediseases.org
Quest Diagnostics –
http://www.questdiagnostics.com
Health Topics: Eye Diseases
http://www.nlm.nih.gov
Prepared By: Gwendolyn
Jones
Description
Retinal detachment (Knobloch Syndrome, Type I) is a
separation of the light-sensitive membrane in the back of
the eye, the retina, from the supporting layers. The
retina is a clear tissue positioned at the back of the eye.
It helps a person see images that are focused on by the
eye. When retinal detachment occurs, bleeding from
small retinal blood vessels may cloud the interior of the
eye, this area is normally filled with a fluid called the
vitreous fluid. The central vision will become severely
affected if the macula, the part of the retina responsible
for fine vision becomes detached.
Causes
Retinal detachment is associated with a tear or hole in
the retina that results in fluids leaking. This condition
results in a separation of the retina from the underlying
tissues. Retinal detachment sometimes happens without
any underlying cause. It may also be caused by trauma,
diabetes, an inflammatory disorder, or by a related
condition called posterior vitreous detachment.
Symptoms
Symptoms of Retinal detachment are:
 Bright flashes of light, especially in peripheral
vision
 Blurred vision
 Floaters in the eye
 Shadow or blindness in a part of the visual field
of one eye
Treatment
Most patients who experience a retinal detachment will
need immediate surgery, at times within 24-hours of the
first symptoms. If there are no symptoms or if you have
had the detachment for a while, surgery may not be
needed. However unsuccessful reattachments results in
vision loss. Most retinal detachments can be successfully
repaired.
Prevention
Always use protective eye wear to prevent eye trauma;
control your blood sugar if diabetic. Have annual eye
exam.
Sources:
1. Genetics Home Reference,
http://ghr.nlm.nih.gov/conditi
2. MedlinePlus – Health
information
Encyclopedia: Health Topics:
Usher Syndrome
http://www.nlmnih.gov/medli
neplus/ushersyndrome.html
3.Rare Diseases Information
Center
http://rarediseases.info.nih.go
v/GARD/
4.MadisonsFoundation
http://www.madisonsfoundati
on.org/index
5.National Institutes of Health
http://www.usersyndrome.nih
.gov/
Prepared by: Gwendolyn Jones