Eye Care

Myoclonus

Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation.

A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or “sleep starts” that some people experience while drifting off to sleep. These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties.

When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles. Myoclonic jerking may develop in people with:

Simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. In some cases, myoclonus begins in one region of the body and spreads to muscles in other areas. More severe cases of myoclonus can distort movement and severely limit a person’s ability to eat, talk, or walk. These types of myoclonus may indicate an underlying disorder in the brain or nerves.

Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam.

Although clonazepam and sodium valproate are effective in the majority of people with myoclonus, some people have adverse reactions to these drugs. The beneficial effects of clonazepam may diminish over time if the individual develops a tolerance for the drug. Myoclonus may require the use of multiple drugs for effective treatment.

Coma

A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness lasting more than 6 hours. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. A person in a coma cannot be awakened, fails to respond normally to painful stimuli, light or sound, lacks a normal sleep-wake cycle and does not initiate voluntary actions.

Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. Conditions that may result in a coma include:

  • Intoxication – such as illicit drug abuse, overdose or misuse of over the counter medications, prescribed medication, or controlled substances
  • Metabolic abnormalities
  • Central nervous system diseases
  • Acute neurologic injuries such as strokes or herniations
  • Hypoxia
  • Hypothermia
  • Hypoglycemia
  • Traumatic injuries such as head trauma caused by falls or vehicle collisions

It may also be deliberately induced by pharmaceutical agents in order to preserve higher brain functions following a brain trauma, or to save the patient from extreme pain during healing of injuries or diseases.

Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.

Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma.

The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and more ability to respond. Some individuals never progress beyond very basic responses, but many recover full awareness.

Individuals recovering from coma require close medical supervision. A coma rarely lasts more than 2 to 4 weeks. Some patients may regain a degree of awareness after persistent vegetative state. Others may remain in that state for years or even decades. The most common cause of death for someone in a persistent vegetative state is infection, such as pneumonia.

Wilsons Disease

Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes.

Although copper accumulation begins at birth, symptoms usually appear between the ages of 6 and 20 years, but can begin later in life. Wilson’s disease affects approximately one out of every 30,000 people in the world.

Wilson’s Disease is an inherited condition. If one person in a family has Wilson’s Disease, a DNA test often can tell if other family members are affected, if they are carriers or if they are not affected. WD does not appear unless a person receives the same defective gene from both parents. If both parents carry an abnormal gene for Wilson’s disease there is a:

  • 25 percent chance their child will develop the disorder
  • 50 percent chance their child will receive one defective gene from one of the parents, which means the child will not show symptoms of the disorder but is a “carrier”
  • 25 percent chance their child will receive both normal genes, one from each parent, and will be unaffected

In a healthy person, the liver gets rid of copper by releasing it into bile. (Bile is a liquid produced by the liver that helps the body digest food and do other things.) The bile containing the copper passes through the digestive system and then leaves the body with other waste products when a person has a bowel movement. The liver of a person who has Wilson’s Disease does not release copper into bile as it should. Instead, the copper builds up and damages the liver.

The most characteristic symptom of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp.

The primary consequence for most of those with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms occur later in adulthood and most commonly include:

  • Slurred speech (dysarthria)
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Tremor of the head, arms, or legs
  • Impaired muscle tone
  • Sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia)
  • Slowness of movements (bradykinesia)
  • Clumsiness (ataxia)
  • Loss of fine motor skills

A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.

Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, WD can cause severe brain damage, liver failure, and death.

WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating. Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects.

A low-copper diet may also be recommended, which involves avoiding:

  • Mushrooms
  • Nuts
  • Chocolate
  • Dried fruit
  • Liver
  • Shellfish

In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body.

The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas.

VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene.

Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include:

  • Headaches
  • Problems with balance and walking
  • Dizziness
  • Weakness of the limbs
  • Vision problems
  • High blood pressure

Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder. The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.

Treatment for VHL varies according to the location and size of the tumor and its associated cyst. In general, the objective of treatment is to treat the growths when they are causing symptoms but while they are still small so that they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation.

Uveitis

Uveitis is inflammation of part or all of the uveal tract, the layer under the white part of the eye. The uveal tract is made up of 3 parts:

  • Iris – the colored part of the eye
  • Ciliary body
  • Choroid

There are several different types of uveitis. The types get their names based on the part of the uveal tract that is affected.

  • Anterior uveitis – Inflammation of the iris and/or ciliary body. It is also known as iritis or iridocyclitis.
  • Intermediate uveitis – Inflammation of the ciliary body and may extend to the nearby vitreous humor. This type of uveitis is also known as pars planitis.
  • Posterior uveitis – Inflammation of the choroid and may extend to the nearby retina and/or vitreous humor.
  • Panuveitis – Inflammation of all parts of the uveal tract.

The above types of uveitis can also be labeled as granulomatous or non-granulomatous. Granulomas refer to the kind of inflammatory cells that are present. These can be identified with the eye exam by your eye doctor, or by a biopsy of the tissue in the eye.

The causes of uveitis include:

The symptoms of uveitis can vary depending on the type of uveitis. Some forms of uveitis have no symptoms. Other forms of uveitis may have symptoms including:

  • Pain
  • Redness
  • Light sensitivity
  • Floaters
  • A decrease in vision

The uveitis associated with juvenile idiopathic arthritis (JIA) is an anterior uveitis that has no symptoms initially. This type of uveitis is more common in:

  • Patients with a positive ANA (antinuclear antibody) test
  • Patients whose age at onset of JIA is less than 6 years old
  • Patients with oligoarticular form of JIA

However, everyone with JIA needs to get periodic exams to check for uveitis. The eye inflammation can also occur when the joint disease is inactive. The frequency of eye exams will depend on your child’s risk of developing eye problems. Your doctor will tell you how often your child should get eye exams.

Uveitis is diagnosed by a slit lamp exam. The slit lamp exam is a very quick, easy and painless test. It is done by shining a light through a microscope to look for inflammation in the eye.

If your child is diagnosed with uveitis, the eye doctor will likely recommend further tests to look into the cause of your child’s uveitis. The exact tests that are ordered will be based on the part of the eye that is inflamed and whether the inflammation is granulomatous or non-granulomatous. Your child’s eye doctor may recommend your child be evaluated by a rheumatologist to look for an associated autoimmune disease. Rheumatologists and eye doctors often work together to determine the best treatment for your child.

The treatment of uveitis depends on the type seen. Uveitis caused by an infection may require antibiotics or may even get better on its own. Uveitis of unknown cause or that is associated with an autoimmune disease usually requires treatment with medications. Medications to treat the inflammation can be given locally in the eye or systemically by mouth or by injection.

Local treatment with eye drops is usually tried first. Steroid eye drops are typically used for treatment of anterior uveitis. Steroids help to reduce the inflammation. Depending on how much inflammation is present, the steroid eye drops may need to be given several times a day. Drops that dilate the eye are also an important part of treatment. These dilating drops help to prevent adhesions from forming. Adhesions are like bands of scar tissue that can occur as a result of inflammation. If present, the adhesions can prevent the pupil from getting larger or smaller.

Steroid eye drops do not work as well for the treatment of intermediate or posterior uveitis (inflammation in the middle or back of the eye), as it is difficult for the drops to get deeper into the eye. Therefore, a local injection (shot in the eye) of steroids may be used to treat intermediate or posterior uveitis.

If local treatment is not effective, then your eye doctor may recommend systemic treatment. Systemic treatment is medication given by mouth, injection, or infusion that travels throughout the whole body. Systemic treatment usually consists of stronger anti-inflammatory medications. This therapy is usually managed by a rheumatologist instead of the eye doctor. Rheumatologists are doctors that specialize in the treatment of different types of inflammation.

Complications may occur due to the inflammation or sometimes from the medications. Following is a list of possible complications that may occur:

  • Cataracts – clouding of the lens in the eye
  • Glaucoma – increased pressure in the eye
  • Posterior synechiae – adhesions or bands of scar tissue

All of the complications could possibly lead to an element of visual loss. However, your child’s eye doctor will closely monitor for any problems. If complications do occur, different treatments are available.

Styes and Chalazia

Styes and chalazia are lumps in or along the edge of an eyelid. They may be painful or annoying, but they are rarely serious. Most will go away on their own without treatment.

  • stye is an infection that causes a tender red lump on the eyelid. Most styes occur along the edge of the eyelid. When a stye occurs inside the eyelid, it is called an internal hordeolum.
  • chalazion is a lump in the eyelid. Chalazia (plural) may look like styes, but they are usually larger and may not be painful.

Styes and chalazia may be related to blepharitis, a common problem that causes inflammation of the eyelids.

Home treatment is all that is needed for most styes and chalazia.

  • Apply warm, wet compresses 3 to 6 times a day. This usually helps styes and chalazia heal faster. It may also help open a blocked pore so that it can drain and begin to heal.
  • Use an over-the-counter treatment. Try an ointment (such as Polysporin), solution (such as Bausch and Lomb Moisture Eyes), or medicated pads (such as Lid-Care Towelettes).
  • Let it open on its own. Do not squeeze or open a stye or chalazion.
  • Don’t wear eye makeup or contact lenses until after the stye or chalazion heals.

If a stye or chalazion gets very large, the doctor may need to pierce (lance) it so it can drain and heal. Do not try to lance it yourself.

To help prevent styes and chalazia:

  • Don’t rub your eyes. This can irritate your eyes and let in bacteria. If you need to touch your eyes, wash your hands first.
  • Replace eye makeup, especially mascara, at least every 6 months. Bacteria can grow in makeup.
  • Treat any inflammation or infection of the eyelid promptly. If you get styes or chalazia often, wash your eyelids regularly with a little bit of baby shampoo mixed in warm water.

Styes

Styes are caused by a bacterial infection. Usually the bacteria grow in the follicle of an eyelash. An internal hordeolum is caused by infection in one of the tiny oil glands inside the eyelid.

A stye usually starts as a red bump that looks like a pimple along the edge of the eyelid.

  • As the stye grows, the eyelid becomes swollen and painful, and the eye may water.
  • Most styes swell for about 3 days before they break open and drain.
  • Styes usually heal in about a week.

If a stye is not getting better with home treatment, talk to your doctor. You may need a prescription antibiotic eye ointment or eyedrops. You may need to take antibiotic pills if infection has spread to the eyelid or eye.

Chalazion

A chalazion develops when an oil gland in the eyelid becomes blocked. If an internal hordeolum doesn’t drain and heal, it can turn into a chalazion.

A chalazion forms a firm lump or cyst under the skin of the eyelid.

  • Chalazia grow more slowly than styes. If a chalazion gets large enough, it may interfere with vision.
  • The inflammation and swelling may spread to the area surrounding the eye.
  • Chalazia often go away in a few months without treatment.

Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal embryological development of the optic disk, pituitary deficiencies, and often absence of the septum pellucidum (a midline part of the brain). It is also known as de Morsier syndrome.

Septo-optic dysplasia is linked to young maternal age. One third of Septo-optic births are the result of teenage pregnancies. The cause of septo-optic dysplasia is not known. Rare familial recurrence has been reported, suggesting at least one genetic form.

Symptoms may include:

  • Blindness in one or both eyes
  • Pupil dilation in response to light
  • Nystagmus (a rapid, involuntary to-and-fro movement of the eyes)
  • Inward and outward deviation of the eyes
  • Hypotonia (low muscle tone)
  • Hormonal problems
  • Seizures
  • In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth

Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

Pink Eye

Pink eye (conjunctivitis) is redness and swelling of the lining of the eyelid and eye surface. The lining is called the conjunctiva. The lining of the eye is normally clear and colourless.

Pink eye is common. It spreads easily, especially among children in day care centres and schools.

Pink eye is most often caused by a virus. It usually occurs at the same time as or right after you have had a cold. Less commonly, pink eye can be caused by infection with bacteria. Dry air, allergies, smoke, and chemicals can also cause pink eye.

Symptoms of pink eye include:

  • Redness.
  • Itchy or burning eyes.
  • More tears than usual. The eye may drain a clear or slightly thick, whitish liquid.
  • Grey or yellow drainage from the eye. It is common to wake up with the eyelashes of one or both eyes stuck together from this dried drainage.
  • Mild sensitivity to light.

You may have symptoms in one eye, both eyes, or the symptoms may spread from one eye to the other eye. When pink eye is caused by a virus, symptoms usually start in one eye and may then spread to the other eye.

If you have other symptoms like eye pain or a change in your vision, if you wear contact lenses, or if you have other medical problems, you may have a more serious eye problem. In these cases it is especially important to see a doctor. Young children with pink eye may have an ear infection, so they also need to see a doctor right away.

Because pink eye is often spread from eye to hand to eye, good handwashing is important. Sharing a face cloth, towel, or other item with a person who has pink eye can spread the infection. Follow these tips to help prevent the spread of pink eye:

  • Wash your hands before and after you touch your eyes or face or use medicine in your eyes.
  • Do not share eye makeup.
  • Do not share contact lens equipment, containers, or solutions.
  • Do not share eye medicine.
  • Do not share towels, bed linens, pillows, or handkerchiefs.
  • Use clean linens, towels, and face cloths each day.

To decide when you should return to work or school, think about pink eye like you would a cold. Base your decision on how you feel and on whether you might spread pink eye to other people, especially the very young and the very old. Some schools ask that children with pink eye be kept at home until they are better or have started antibiotic treatment.

If your doctor thinks the pink eye is caused by bacteria, he or she may prescribe antibiotic eyedrops or eye ointment to kill the bacteria. With antibiotic treatment, symptoms usually go away in 2 to 3 days.

Antibiotics only work for bacterial pink eye, not for the more common viral pink eye. Viral pink eye often clears on its own in 7 to 10 days. If your symptoms last longer, call your doctor.

If the pink eye is caused by an allergy or chemical, it will not go away until you avoid whatever is causing it.

Home treatment of pink eye symptoms can help you feel more comfortable while the infection goes away.

  • Wash your hands often. Always wash them before and after you treat pink eye or touch your eyes or face.
  • Use moist cotton or a clean, wet cloth to remove crust. Wipe from the inside corner of the eye to the outside. Use a clean part of the cloth for each wipe. If the infection is in only one eye, be careful not to spread it to the other eye.
  • Put cold or warm wet cloths (whichever feels better) on your eye a few times a day if the eye hurts.
  • Do not wear contact lenses until the pink eye is gone. Sterilize your contacts, and clean your storage case. If you wear disposable contacts, use a new pair when your eye has cleared and it is safe to wear contacts again. Wait at least 2 days after the symptoms are gone before you wear contacts again.
  • If the doctor gave you antibiotic eyedrops or ointment, use them as directed. Use the medicine for as long as instructed, even if your eye starts to look better sooner. Keep the bottle tip clean, and do not let it touch the eye area.
  • Do not wear eye makeup until the pink eye is gone. Throw away any eye makeup you were using when you got pink eye.
  • Do not share towels, pillows, or face cloths while you have pink eye.
  • Use allergy eyedrops and medicines to reduce symptoms of pink eye caused by allergies.

PHACE Syndrome

Most hemangiomas of infancy are not serious and require little or no treatment. However, a small group of children with facial hemangiomas can have other problems. PHACE syndrome may be suspected in infants with large hemangiomas on the face, head, and/or neck.

PHACE stands for:

P = Posterior fossa. This refers to possible abnormal structures in the brain, especially the cerebellum

H = Hemangioma

A = Arterial. This refers to possible abnormal arteries in the brain

C = Cardiac. This refers to possible heart abnormalities

E = Eyes. This refers to possible eye abnormalities

There can also be abnormalities in the sternum (breastbone) or thyroid of the infant.

Infants diagnosed with PHACE syndrome may only have one or two of these abnormalities.

The cause of PHACE syndrome is unknown. However, it is:

  • Not related to drugs or medications taken during pregnancy
  • Not related to being exposed to things in the environment during pregnancy

Hemangiomas associated with PHACE syndrome are usually small or not there at birth, but are easier to see during the first days to weeks of life. They can grow quite fast. Hemangiomas linked with PHACE syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.

If the medical history and the actual exam of the hemangioma look typical for PHACE syndrome, more tests are ordered to confirm the diagnosis. These tests may include:

  • Ultrasound
  • Magnetic resonance imaging (MRI)
  • Magnetic resonance angiography of the brain (MRA)
  • Echocardiogram of the heart
  • Eye exam by an eye doctor

Other tests may be needed for diagnosis and treatment.

As it grows, the hemangioma can break down skin, distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. If the brain is involved, these could include:

  • Developmental delay
  • Seizures
  • Headaches
  • Abnormal muscle tone

PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pays close attention to how these children develop throughout the school age period.

Usually the hemangioma requires medical therapy. The child may need other therapies, depending on what other organs or structures are involved.

Opsoclonus Myoclonus

Opsoclonus myoclonus (OMS) is a rare neurological disorder of unknown causes which appears to be the result of an autoimmune process involving the nervous system.

It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year. About half of all OMS cases occur in association with neuroblastoma – a cancer of the sympathetic nervous system usually occurring in infants and children. It typically occurs at an average age of 19 months (6 to 36 months).

Symptoms include:

  • An unsteady, trembling gait
  • Myoclonus – brief, shock-like muscle spasms
  • Opsoclonus – irregular, rapid eye movements
  • Difficulty speaking, poorly articulated speech, or an inability to speak
  • A decrease in muscle tone
  • Lethargy
  • Irritability
  • Malaise – a vague feeling of bodily discomfort
  • Drooling
  • Vomiting
  • Sleep disturbances
  • Strabismus – a condition in which the eyes are not properly aligned with each other

Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.

The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal.

Treatment for opsoclonus myoclonus may include corticosteroids or ACTH (adrenocorticotropic hormone). In cases where there is a tumor present, treatment such as chemotherapy, surgery, or radiation may be required.