ALBINISM - CAUSES

A defect in one of several genes that produce or distribute melanin causes

albinism. The defect may result in the absence of melanin production, or a
reduced amount of melanin production. The defective gene passes down from
both parents to the child and leads to albinism.

What Is Electroretinography?

An electroretinography (ERG) test, also known as an electroretinogram, measures the

electrical response of the light-sensitive cells in your eyes.

These cells are known as rods and cones. They form part of the back of the eye known
as the retina. There are around 120 million rods in the human eye and 6 to 7 million
cones. The cones are responsible for the eye’s color sensitivity. They reside mostly in
your eye’s macula. The rods are more sensitive to light than the cones, but they’re not
more sensitive to color.

Why Do I Need an Electroretinography Test?

Your doctor may perform an ERG to determine if you have an inherited or acquired
disorder of the retina, such as:

 retinitis pigmentosa, which is a genetic disease causing loss of peripheral and

night vision
 macular degeneration, which is a loss of vision due to the death of cells in the
macula
 retinoblastoma, which is a cancer of the retina
 retinal separation, which is a detachment of the retina from the back of the
eyeball
 cone rod dystrophy (CRD), which is vision loss due to impaired cone and rod
cells

An ERG may also help your doctor assess your need for retinal surgery or other types
of eye surgery, such as the removal of cataracts.

What Happens During an Electroretinography Test?

The following occurs during an ERG:

1. Your doctor will ask you to lie down or sit in a comfortable position.
2. They’ll dilate your eyes with eye drops in preparation for the test.
3. Your doctor will place anesthetic drops in your eyes, which will make them numb.
4. They’ll use a device known as a retractor to hold open your eyelids. This will
enable them to carefully place a small electrode on each eye. The electrodes are
about the size of a contact lens.
5. Your doctor will attach another electrode to your skin so that it functions as a
ground for the faint electrical signals made by the retina.
6. You’ll then watch a flashing light. Your doctor will conduct the test in normal light
and in a darkened room. The electrode enables the doctor to measure your
retina’s electrical response to light. The responses recorded in a light room will
mainly be from your retina’s cones. The responses recorded in a darkened room
will mainly be from your retina’s rods.
 7. The information from the electrodes transfers to a monitor. The monitor displays
and records the information. It appears as a-waves and b-waves. The a-wave is
a positive wave that originates mainly from your eye’s cornea. It represents the
initial negative deflection of a flash of light. The b-wave, or positive deflection,
follows. The plot of the b-wave’s amplitude reveals how well your eye reacts to
light.

What Do the Results Mean?

Normal Results

If your results are normal, they’ll show the wave patterns of a normal eye in response to
each flash of light.

Abnormal Results

Abnormal results may indicate any of the following conditions:

 arteriosclerosis damage to the retina

 congenital retinoschisis, which is a splitting of layers in the retina
 congenital night blindness
 giant cell arteritis
 retinal detachment
 cone rod dystrophy (CRD)
 certain medications
 vitamin A deficiency
 trauma

What Are the Risks Associated with an Electroretinography Test?

There are no risks linked to the ERG. You may feel a slight discomfort during the
procedure. The placement of the electrode feels something like having an eyelash
lodged in your eye. Your eyes may feel slightly sore for a short time after the test.

In very rare cases, some people suffer from a corneal abrasion from the test. If this
happens, your doctor can detect it early and treat it easily.

Monitor your condition after the procedure and follow all aftercare instructions your
doctor gives you. If you have continued discomfort following an ERG, you should
contact the doctor who performed the test.

What Happens After an Electroretinography Test?

Your eyes will likely feel sensitive after the test. You should avoid rubbing your eyes for
up to an hour after the test. This may cause corneal damage because they’ll still be
numb from the anesthetic.

Your doctor will discuss your results with you. They may order further tests to assess
your eye. You may need surgery if you have a disorder such as retinal separation or
trauma.
Your doctor may prescribe you medication to treat other retinal conditions.

ANGELMAN SYNDROME

CAUSES Angelman syndrome is a genetic disorder. It's usually caused by problems with a
gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.
A missing or defective gene
■ You receive your pairs of genes from your parents — one copy from your mother
(maternal copy) and the other from your father (paternal copy).
■ Your cells typically use information from both copies, but in a small number of genes,
only one copy is active.
■ Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of
AS occur when part of the maternal copy is missing or damaged.
■ In a few cases, AS is caused when two paternal copies of the gene are inherited, instead
of one from each parent.
RISK FACTORS
■ Angelman syndrome is rare. Researchers usually don't know what causes the genetic
changes that result in Angelman syndrome. Most people with Angelman syndrome don't
have a family history of the disease.
■ Occasionally, Angelman syndrome may be inherited from a parent. A family history of
the disease may increase a baby's risk of developing Angelman syndrome.

■ Children with Angelman syndrome typically have a happy, excitable demeanor

with frequent smiling, laughte r, and hand-flapping movements. Hyperactivity, a
short attention span, and a fascination with water are common. Most affected
children also have difficulty sleeping and need less sleep than usual.
■ With age, people with Angelman syndrome become less excitable, and the
sleeping problems tend to improve. However, affected individuals continue to
have intellectual disability, severe speech impairment, and seizures throughout
their lives.

Marfan Syndrome

CAUSES
The syndrome is caused by a defect in a gene known as FBN1, which controls the
structure of fibrillin-1, a protein that’s an important part of the connective tissue
in the body.
About 75 percent of children with Marfan syndrome have inherited the
condition from a parent. In the other 25 percent of children, the gene mutates
spontaneously for no apparent reason.

What is an echocardiogram?

An echocardiogram (echo) uses sound waves to see the heart's structures and function.
It’s also called a cardiac ultrasound. It is used to diagnose and assess many problems
with the heart. 

Why is an echocardiogram performed?

Your child’s doctor may use an echocardiogram to look at the structure and function of
your child’s heart. An echocardiogram can show:
 the strength of the heart's pumping ability
 the size and shape of the heart and its walls
  any structural or functional problems with the heart valves, such as narrowing or
leaking
 problems with the blood vessels that bring blood to and from the heart
 blood clots in the heart
 abnormal holes in the heart
 problems with the heart's lining

What can I expect during an echocardiogram?

Before an echocardiogram, a technician will attach small plastic adhesive patches

(electrodes) to your child's chest to monitor the heart’s rhythm.
The technician will place gel on your child's chest and then place a small camera, called
a transducer, on the gel. Your child will feel a slight pressure as the technician moves
the transducer around his or her chest to get pictures of the heart. Once the
echocardiogram is done, the technician will wipe the gel from your child's chest and
remove the electrodes.
To get clear pictures, it’s important for children to be as still as possible during the
procedure. In some cases, younger children may need to be sedated for the
echocardiogram. 

What are the different types of echocardiograms?

There are several types of echocardiograms, including:

 Regular echocardiogram, which is done by taking pictures with a camera
outside of the body while the child is lying on a bed.
 Stress echocardiogram, used to examine what happens to the heart during a
period of stress, produced either by medications or by exercise.
 Transesophageal echocardiogram (TEE), which is done by placing the camera
inside the body. The child is sedated and a camera is placed into the esophagus,
which lies directly behind the heart. TEE images provide higher-resolution
images of certain parts of the heart.

What is an electrocardiogram?

An electrocardiogram (ECG or EKG) is a painless test that measures the electrical

activity of the heart. An EKG can show how fast the heart is beating, the rhythm of the
heart beats and timing of the individual heart chambers as they squeeze. 

Why is an electrocardiogram performed?

Doctors often use EKGs to help diagnose heart conditions. They may also use an EKG
to:
 get a baseline tracing of the heart's electrical activity
 test the heart before cardiac catheterizations or surgeries

 monitor the effect of certain heart medications

 check the heart rhythm after a procedure such as a cardiac catheterization, heart
surgery or electrophysiological study

What can I expect during an electrocardiogram?

An EKG normally takes about 5 to 10 minutes.

To perform an EKG, a technician will place small plastic stickers on your child's chest,
arms and legs. These stickers are connected to an EKG machine by small clips and
wires. The machine will then print out the electrical activity for your physician to review.
When an EKG is being performed, it is important for your child to lie as still as possible.
Once the tracing is complete, the technician will disconnect the wire and remove the
stickers.

Are there other types of electrocardiograms?

There are several variations of the EKG, including:

 an exercise EKG
 a signal-averaged EKG (a more detailed type of EKG that usually takes about 15
to 20 minutes)
 24-hour Holter monitor or 30-day event monitor

Cardiac MRI in Children

What is cardiac MRI?

Cardiac magnetic resonance imaging (MRI) is a test that uses radio waves, magnets
and a computer to take pictures of your child’s heart. Doctors use the test to evaluate
the structure and function of the heart and blood vessels.
It’s considered "non-invasive" because the machine takes pictures without entering the
body. MRI doesn’t use x-rays or radioactive radiation.

Why is a cardiac MRI performed?

A cardiac MRI is done to evaluate the structure and function of the heart and blood
vessels. An MRI may provide your child’s doctor with information about your child’s
heart that can’t be obtained by other tests.

What can I expect during a cardiac MRI?

A cardiac MRI usually lasts 45 to 90 minutes. The MRI machine sits in a large room and
looks like a tunnel. Your child will lie down on a table that slides into the tunnel.
The MRI machine makes loud banging and clicking noises during most of the exam.
You child will get earplugs to soften the noise and can watch a movie or listen to music.
During the MRI, your child may be asked to hold his or her breath for brief periods (10 to
20 seconds). This helps create clearer pictures.
Some children receive a contrast dye, called gadolinium, during the exam to help get a
better picture of blood vessels or heart muscle. The medicine is given through an
intravenous line (IV) placed before the exam. 

Will my child need sedation or anesthesia?

To get clear pictures, your child needs to remain still in the MRI scanner during the test.
Young children and those who can’t lie still or are afraid of the machine may need to be
sedated or have general anesthesia.
Some children may experience anxiety inside the tunnel (claustrophobia).