What is neuromyelitis optica? How does it affect the eye and nervous system? What causes this autoimmune disorder? Get the facts about this rare condition.

Understanding Neuromyelitis Optica

Neuromyelitis optica is an autoimmune disorder that primarily affects the nerves of the eyes and the central nervous system, including the brain and spinal cord. This condition occurs when the immune system malfunctions and attacks the body’s own tissues and organs, leading to inflammation and damage.

Symptoms of Neuromyelitis Optica

The key symptoms of neuromyelitis optica include optic neuritis, which is inflammation of the optic nerve causing eye pain and vision loss, and transverse myelitis, which is inflammation of the spinal cord leading to weakness, numbness, and paralysis of the arms and legs. Damage to the myelin sheath that protects nerves can also disrupt the efficient transmission of nerve impulses, resulting in additional complications like breathing difficulties, bladder/bowel control issues, and nausea.

Forms of Neuromyelitis Optica

There are two main forms of neuromyelitis optica: the relapsing form and the monophasic form. The relapsing form, which is more common, is characterized by recurring episodes of optic neuritis and transverse myelitis separated by periods of partial recovery. The monophasic form involves a single episode lasting several months, which can still leave lasting vision and muscle impairment.

Relationship to Other Autoimmune Disorders

Approximately one-quarter of individuals with neuromyelitis optica also have signs or symptoms of another autoimmune disorder, such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some experts believe a condition known as optic-spinal multiple sclerosis may be the same as neuromyelitis optica.

Potential Causes of Neuromyelitis Optica

The exact genetic and environmental factors that contribute to the development of neuromyelitis optica are not fully understood. However, research has identified the aquaporin-4 protein as playing a key role. Approximately 70% of people with this disorder produce an autoantibody that binds to and activates the complement system, leading to the characteristic inflammation and nerve damage.

Prevalence and Incidence

Neuromyelitis optica affects approximately 1 to 2 people per 100,000 worldwide. Women are affected more frequently than men, and the condition can onset anytime from childhood to adulthood, though it most commonly begins in a person’s forties.

Diagnosing and Treating Neuromyelitis Optica

Diagnosis of neuromyelitis optica involves a thorough medical history, neurological exam, and tests to detect the presence of the NMO-IgG autoantibody. Treatment typically focuses on managing acute attacks with corticosteroids or plasma exchange, as well as long-term immunosuppressant therapy to prevent future relapses and reduce disease progression.

What is the connection between neuromyelitis optica and the aquaporin-4 protein? Approximately 70% of individuals with neuromyelitis optica produce an autoantibody that binds to the aquaporin-4 protein, a normal protein found abundantly in the central nervous system. This binding activates the complement system, leading to the characteristic inflammation and nerve damage seen in the condition.

How does neuromyelitis optica manifest in the eyes and vision? Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the optic nerve. This causes eye pain and vision loss, which can occur in one or both eyes. The damage to the optic nerve can result in permanent vision impairment even between acute episodes.

What are the differences between the relapsing and monophasic forms of neuromyelitis optica? The relapsing form, which is more common, involves recurring episodes of optic neuritis and transverse myelitis separated by periods of partial recovery. The monophasic form, which is less common, consists of a single episode lasting several months, which can still leave lasting vision and muscle impairment.

How prevalent is neuromyelitis optica? Neuromyelitis optica affects approximately 1 to 2 people per 100,000 worldwide. Women are affected more frequently than men, and the condition can onset anytime from childhood to adulthood, though it most commonly begins in a person’s forties.

Neuromyelitis optica: MedlinePlus Genetics

Description

Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body’s own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.

Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes.

Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica.

There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person’s forties.

Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.

Frequency

Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men.

Causes

No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. It is thought that the inheritance of this condition is complex and that many environmental and genetic factors are involved in the development of the condition.

The aquaporin-4 protein (AQP4), a normal protein in the body, plays a role in neuromyelitis optica. The aquaporin-4 protein is found in several body systems but is most abundant in tissues of the central nervous system. Approximately 70 percent of people with this disorder produce an immune protein called an antibody that attaches (binds) to the aquaporin-4 protein. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in people with neuromyelitis optica attacks a normal human protein; this type of antibody is called an autoantibody. The autoantibody in this condition is called NMO-IgG or anti-AQP4.

The binding of the NMO-IgG autoantibody to the aquaporin-4 protein turns on (activates) the complement system, which is a group of immune system proteins that work together to destroy pathogens, trigger inflammation, and remove debris from cells and tissues. Complement activation leads to the inflammation of the optic nerve and spinal cord that is characteristic of neuromyelitis optica, resulting in the signs and symptoms of the condition.

The levels of the NMO-IgG autoantibody are high during episodes of neuromyelitis optica, and the levels decrease between episodes with treatment of the disorder. However, it is unclear what triggers episodes to begin or end.

Inheritance

Neuromyelitis optica is usually not inherited. Rarely, this condition is passed through generations in families, but the inheritance pattern is unknown.

Other Names for This Condition

• Devic disease
• Devic neuromyelitis optica
• Devic syndrome
• Devic’s disease
• Optic-spinal MS
• Opticospinal MS

Additional Information & Resources

Genetic and Rare Diseases Information Center

• Neuromyelitis optica spectrum disorder

Patient Support and Advocacy Resources

• Disease InfoSearch
• National Organization for Rare Disorders (NORD)

Research Studies from ClinicalTrials.

gov

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• AQUAPORIN 4

Scientific Articles on PubMed

• PubMed

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Ocular Autoimmune Disease: An Introduction – Uveitis.org

The immune system, ordinarily in the “business” of protecting us from harm, generally protecting us from germs and cancer cells, can become deranged, disregulated, with the result being an immune attack on part of our own body. This state of affairs is termed autoimmunity, or immune attack against self.

A number of autoimmune diseases exist, the most famous, perhaps being rheumatoid arthritis. In rheumatoid arthritis the white blood cells of the immune system become disregulated or “confused” and begin to attack the individual’s joints. A number of autoimmune diseases exist in which the eye or various parts of the eye may be attacked by the white blood cells. Often the autoimmune disease is systemic, i.e., a variety of organs throughout the body system are being attacked. Examples of such diseases include rheumatoid arthritis, systemic lupus erythematosus, polyarteritis nodosa, relapsing polychondritis,
Granulomatosis with Polyangiitis (formerly called Wegener’s), scleroderma, Behcet’s disease, Reactive Arthritis (formerly called Reiter’s syndrome), inflammatory bowel disease (ulcerative colitis and Crohn’s disease) and ankylosing spondylitis.

The eye may be affected as a target of immune inflammatory attack in any of these diseases. The eye may, however, in certain instances be the specific and only target affected by certain autoimmune diseases. Some such diseases include ocular cicatricial pemphigoid, Mooren’s corneal ulcer, and various forms of uveitis.

Regardless of the form of autoimmunity, any autoimmune disease affecting the eye will require systemic (e.g., oral as opposed to local, topical, ocular) therapy; the components of the immune system reside not in the eye, but rather are systemic, and therefore, regulation of those components will require systemic therapy. Such therapy is typically designed to suppress the overly aggressive immune system, allowing the body to eventually re-regulate itself, with the result often being that after the patient has been kept on systemic medications to suppress the inappropriate immune response for a finite length of time (for example, one year), medication can then be tapered and stopped without recurrence of the autoimmune attack. Sometimes resumption of the attack does occur, in which case the patient must be re-treated.

Ophthalmologists in general are not accustomed to treating patients systemically, and in particular, are not trained to use immunosuppressive drugs in order to control autoimmune phenomena. Many ophthalmologists, however, realize that such treatment is appropriate and indicated for the aforementioned problems, and therefore, the ophthalmologist will collaborate with a chemotherapist who will take responsibility for monitoring and managing the patient’s systemic therapy, while the ophthalmologist monitors the progress of the ocular manifestation of the autoimmune attack (inflammation).

In most instances, this collaboration between ophthalmologist and chemotherapist works very well, and our experience in helping ophthalmologists to establish such collaborations and to effectively treat patients with autoimmune diseases affecting the eye has been gratifyingly successful in almost every country around the globe. This represents a major change from years ago, when many patients still lost all use of one or both eyes from the ravages of improperly treated autoimmune disease affecting the eye.

The hope for the future is for more selective treatment strategies for specific autoimmune diseases, for example, cloning the causative gene for that protein, which we could use as a strategy to re-regulate patients’ immune systems to that protein without the use of immunosuppressant drugs. It is entirely possible that similar strategies can be applied effectively in all autoimmune ocular diseases and studies are underway.

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Features of ophthalmic pathology in autoimmune diseases | Lukashenko

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Eye and autoimmune rheumatic diseases

• 1
  Rheumatoid arthritis

• 2
  Systemic lupus erythematosus

• 3
  scleroderma

• 4
  Hashimoto’s thyroiditis

• 5
  Seronegative spondyloarthropathies

• 6
  Eye damage in rheumatic diseases

• 7
  Sjögren’s syndrome

• 8
  cicatricial pemphigoid

• 9
  Steven-Johnson Syndrome

• 10
  Graft-versus-host disease

Most rheumatic diseases are immunological in nature, attacking one’s own tissues, this is what we know as an autoimmune reaction, and it can affect various parts of the body, including the eyes, so it is important to know this connection between rheumatic diseases and eye damage.

In this article, we will consider the most common rheumatic and autoimmune processes that can affect the eyes, as well as the form of manifestation at the eye level:

Rheumatoid arthritis abilities. Sometimes its behavior is extra-articular in nature and can affect various organs and systems, such as the eyes, lungs and pleura, heart and pericardium, skin or blood vessels. Although the cause of the disease is unknown, autoimmunity plays an important role in the chronic course of the disease.

At the eye level of the crisis, uveitis (inflammation of the middle membrane of the eye: iritis, when located anteriorly and choroiditis, when it affects the back region). Another form of manifestation is episcleritis, scleritis or dry eye syndrome due to damage to the lacrimal glands and the ocular surface (cornea and conjunctiva).

Articular deformity of the hand in rheumatoid arthritis

Systemic lupus erythematosus

This is a chronic autoimmune disease affecting the connective tissue, characterized by inflammation and tissue damage mediated by the immune system, in particular due to the binding of antibodies to body cells and the deposition of antigen-antibody complexes. It can affect any part of the body, although the most common sites are the reproductive system, joints, skin, lungs, blood vessels, kidneys, liver (the first organ it usually affects), and the nervous system. . The course of the disease is unpredictable, periods of crises alternate with remissions. It is nine times more common in women than in men. The first manifestations of the disease are more often observed between the ages of 15 and 44 years.

Erythema of the wings of a butterfly in systemic lupus erythematosus. Erythema and inflammation of the skin in systemic lupus erythematosus.

Eye involvement can also be in the form of uveitis scleritis, conjunctivitis o Dry eye syndrome.

Scleroderma

Scleroderma (“roughening of the skin”), also called progressive systemic sclerosis and CREST syndrome, is a diffuse connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The causes of this disease are unknown.

Scleroderma causes thickening and hypertrophy of the connective tissue, increasing its volume. It can also cause swelling or pain in muscles and joints.

Hands in claws due to sclerosis of the skin in scleroderma

At the eye level, they often appear conjunctivitis, non-infectious diseases that are difficult to diagnose, as well as ocular dryness and inflammation of the internal structures of the eye: retinal vasculitis and uveitis.

Hashimoto’s thyroiditis

This is an autoimmune disease (due to antithyroid autoantibodies) that causes inflammation of the thyroid gland. It is a common cause of primary subclinical hypothyroidism due to thyroiditis, goiter, or severe hypothyroidism. The clinical picture is the same as in any condition of hypothyroidism, so the treatment is thyroid hormone replacement therapy. The disease is more common in women than in men (in a ratio of 14:1), usually manifests or is detected between the ages of 20 and 30 years.

Enlargement of the thyroid gland in Hashimota thyroiditis

At the ocular level, non-infectious conjunctivitis and dryness syndrome due to hyposecretion of lacrimal fluid and drying of the ocular surface are common, since these patients usually have altered, less frequent and incomplete blinking.

Seronegative spondyloarthropathies

Spondyloarthropathies are autoimmune inflammatory diseases of the spine, spine and especially the sacroiliac joints. The term seronegative spondyloarthropathy comes from the fact that a blood test or serological test called rheumatic factor is negative. This group includes diseases such as ankylosing spondylitis, psoriatic arthropathy, Reiter’s syndrome (or reactive arthritis), Crohn’s disease, uveitis, etc. From 60% to 90% of people with this disease have the HLA-B27 antigen, but only 8% of the population have this antigen.

Inflammation and pain in the lumbosacral spine in seronegative spondyloarthropathies Mucocutaneous manifestations and conjunctivitis Sx. Reiter

These patients commonly present with multiple ocular changes, especially uveitis, scleritis, conjunctivitis, and even corneal involvement. keratitis y ulcers that can reduce vision in a very important way.

Eye affection in rheumatic diseases

All these diseases have a great influence at eye level. They cause inflammatory processes that can affect the most superficial layers of the eye, such as simple conjunctivitis, or deeper layers, causing episcleritis, scleritis, uveitis, and vasculitis in the vessels of the eye. retina. It is important to know this connection between rheumatic and ocular diseases, as a correct diagnosis of ocular manifestations can help to identify a systemic process and vice versa. In people suffering from a rheumatic process involving the eyes, the latter will not resolve unless the former is properly treated. This is why it is essential that an ophthalmologist be first and foremost a physician and thus work alongside other specialists. At the level of the ocular surface, it is worth mentioning Sjögren’s syndrome, a frequent pathology in immunological diseases.

Sjögren’s syndrome

It can be primary or secondary, in primary forms it usually has an idiopathic cause and appears in women between the 4th. and 5th. decade of life. In secondary forms, it is associated with autoimmune diseases: rheumatoid arthritis, lupus erythematosus, scleroderma, Hashimoto’s thyroiditis, etc. The age of manifestation varies greatly, more often in women.

The eye condition is characterized by the development of dryness and atrophy of the conjunctiva and cornea, causing this condition: Keratoconjunctivitis dry. What causes a feeling of sand, burning, itching, hyperemia, decreased tearing, which leads to the accumulation of thick stripes in the inner corner of the eye, photosensitivity and blurred vision. Secondary infections, ulcers and iridocyclitis.

Leukoma and neovascularization of the cornea in the advanced stages of Sjögren’s syndrome

cicatricial pemphigoid

This is an idiopathic, chronic and progressive process, more common in older people and women. It is characterized by the presence of recurrent subepithelial pots and vesicles on the skin and mucous membranes with a tendency to scarring.

In the eyes, papillary conjunctivitis may debut and later form subconjunctival vessels, which, when opened, leave ulcers and pseudomembranes. The most dangerous eye complications are: severe dryness of the eyes, conjunctival adhesions, palpebral adhesions, cicatricial eversion of the eyelid (eversion of the eyelid outwards).

Simblepharon in cicatricial pemphigoid

Steven-Johnson syndrome

Disease of the mucous membranes with the formation of amphipods and vesicles, acute and severe course, usually self-limiting. It is more common in healthy young people and men.

Causes that can provoke the disease are hypersensitivity reactions to drugs, infections caused by Mycoplasma Pneumoniae and herpes simplex virus.

At the ocular level, it may present with papillary conjunctivitis, which may heal without sequelae or cause complications such as: keratinization and fibrosis of the conjunctiva, metaplastic inlays, obstruction of the lacrimal ducts, ectropion (eyelid eversion outwards) and inversion cicatricial (eversion of the eyelids inward).

Blefaritis associated with conjunctivitis with purulent discharge in Stevens-Johnson Sx

Graft-versus-host disease

In GVHD, the immune response originates from the donor tissue (usually bone marrow) and is produced against the recipient, who is usually immunosuppressed.