Your doctor has diagnosed you with optic disc drusen.
Optic disc drusen are abnormal deposits of protein-like material
in the optic disc – the front part of the optic nerve. We
do not know the exact cause of optic disc drusen but they are thought
to come from abnormal flow of material in optic nerve cells.
Normal Optic Disc
Lumpy Appearance of Optic Disc Drusen
Enlarged View of Optic Disc Drusen
Optic disc drusen occur in about 1% of the population and are
found more frequently in Caucasians. In three-quarters of cases
they appear in both eyes. Optic disc drusen may be inherited or
may occur without any family history. Familial drusen are inherited
as an autosomal dominant trait, which means your mother or father
or child is likely to have the condition.
Optic disc drusen are usually not visible at birth and are rarely
found in infants and children. The drusen tend to develop slowly
over time as the abnormal material collects in the optic nerve
head and calcifies. The average age when optic disc drusen first
appear is about 12. Often, the optic disc has an unusual appearance,
with multiple branches of the major blood vessels as they emerge
on the optic disc.
Multiple Branching of Blood Vessels
As time passes, optic disc drusen can calcify and become more
prominent. Optic disc drusen are rarely associated with any systemic
disease or eye disease.
Symptoms
Optic disc drusen often come to medical attention during a routine
eye examination. Patients usually have no symptoms and do not notice
any problem with their vision. Occasionally, patients may have
flickering or graying out of vision that lasts a few seconds or
they may notice subtle visual field loss. The elevation of the
optic disc with drusen may be mistaken for papilledema, which is
swelling of the optic nerve from high pressure in the brain. This
prompts referral to a neurologist, neuro-surgeon, or even the emergency
room.
Diagnosis
Optic disc drusen either can be buried within the substance of
the optic nerve head or located superficially on the surface of
the optic nerve head. When the drusen are superficial, they appear
as glistening yellow bodies just below the surface of the optic
nerve head and can be seen by ophthalmoscopic examination. When
the optic disc drusen are buried deep in the disc, the drusen are
hidden from direct view by the ophthalmoscope but can be identified
by ultrasound.
Ultrasound Showing Large Druse
If the drusen have become calcified, they also can be detected
with computer tomography (CT) scanning. Visual field testing is
important to detect defects in peripheral vision.
Prognosis
Most patients with optic disc drusen retain normal central vision.
However, over time 70% of patients lose some peripheral vision.
The amount of peripheral visual field loss varies from none to
severe constriction of the peripheral visual field. The visual
field should be followed periodically with formal visual field
testing. Patients with optic disc drusen may also be at an increased
risk for developing non-arteritic anterior ischemic optic neuropathy
(NAION), branch retinal vein occlusion (BRVO), and central retinal
vein occlusion (CRVO).
Although these conditions are uncommon, they may cause permanent
visual loss.
Management and Treatment
There is no proven or standard treatment for optic disc drusen.
Nevertheless, careful monitoring of the visual field is important
to detect progression of visual field loss. Rarely, a small area
of new blood vessels called a choroidal neovascular membrane [CNV]
can develop adjacent to the optic disc. A CNV has a tendency to
bleed and cause sudden visual loss. Early detection of the presence
of CNV is extremely important because prompt treatment can often
prevent serious complications from bleeding.
Frequently Asked Questions
Why did I develop optic disc drusen?
Optic disc drusen are caused by an abnormal deposition of a protein-like
material in the optic nerve. The cause of this material is unknown.
In some individuals, the deposition of this material can be inherited,
while in others it occurs without a family history.
How does my doctor diagnose this condition?
Your doctor can diagnosis this condition either by an ophthalmoscopic
examination or with the aid of ultrasound or computer tomography
(CT) scanning.
Will the drusen get worse?
The number and size of the optic disc drusen tend to increase
over time.
Can this condition affect any of my family members?
Yes, optic disc drusen can occur as an inherited family trait
and may affect first-degree relatives. Patients diagnosed with
optic disc drusen should consider discussing their diagnosis with
their family members so that they undergo screening evaluation.
Optic disc drusen usually do not show up in Infants and children
younger than 4 years.
Should I let other physicians who may be caring for me or other
family members know about my condition?
Yes, it would be helpful for other physicians who are involved
with your care or the care of a family member to know that you
have diagnosed with optic disc drusen. You should inform them that
you do not have papilledema.
Is there anything I can do to prevent the drusen from getting
worse?
No, there is no proven or standard way, no medicine nor diet,
to prevent the optic disc drusen from increasing in size.
Is there any treatment for this condition?
No, there is no proven treatment for optic disc drusen at this
time.
If there is no treatment for optic disc drusen, why should I have
regular ophthalmic examinations?
Some patients with optic disc drusen may rarely develop a growth
of new abnormal blood vessels (choroidal neovascularization) adjacent
to the optic nerve, which may be prone to bleeding. If new blood
vessels develop, they may need laser treatment to prevent bleeding.
Periodic examination is recommended to detect this potentially
serious complication. Additionally, regular visual field testing
is necessary to track any progression of peripheral visual field
loss.
