Demystifying optic atrophy: causes, symptoms, and treatment

Medically reviewed by Tina Patel, Contact Lens Optician at Feel Good Contacts

• Understanding optic atrophy
• Causes of optic atrophy
• Symptoms of optic atrophy
• Optic atrophy diagnosis
• Prognosis and management of optic atrophy
• What do I need to know about optic atrophy?

Optic atrophy (OA) is a term that refers to damage to the optic nerve, a key nerve receptor at the back of the eye. Optic nerve damage is a condition that results in mild to significant vision loss and can be triggered by a number of causal factors.

Identifying the symptoms early is key to managing the condition. The insights in this article aim to explore what it’s like to experience optic atrophy, some of the causes of optic atrophy, possible symptoms and available treatments and methods of managing the condition.

Understanding optic atrophy

Optic nerve damage has a great impact on vision as the optic nerve acts as the receptor that carries visual information from the eye to the brain. When the optic nerve cannot function properly due to damage, sight cannot be processed by the brain, resulting in vision loss.

Causes of optic atrophy

Optic atrophy can be developed early on as a child or in adulthood. It can occur as a result of environmental or lifestyle stimuli such as physical trauma or some people are born with optical damage. Congenital optic atrophy (from birth) can be genetically inherited or a result of genetic change.

Medical professionals use the mnemonic “VIN DITTCH MD” to denote the risk factors related to the causes of optic atrophy.

• Vascular (relating to the body’s network of blood vessels)
• Inflammatory and infectious (immunity-related)
• Neoplastic or compressive (abnormal growth of cells or inflammation at nerve roots)
• Primary Demyelinating disease (nerve fibre damage)
• Idiopathic optic neuritis (spontaneous inflammation of the optic nerve)
• Toxic and Traumatic (exposure to impact or chemicals)
• Congenital (developed before birth)
• Hereditary (inherited from parents)
• Metabolic and endocrine causes (hormonal)
• Degenerative (progressive loss of function in the organs or bodily tissue)

Common causes of the development of optic atrophy include physical changes such as:

• Types of trauma to the eye area
• Tumour growth
• Reduced blood supply (ischemia) or decrease in oxygen supply (hypoxia)
• Localised swelling
• Excessive fluid (hydrocephalus)

Toxins, infection, inflammation, premature birth, and rare disorders can also bring on optic atrophy.

Types and classifications of optic atrophy

Optic atrophy covers a wide scope of possible damage to the optic nerve.

Depending on the cause and effects of the condition, medical professionals categorise instances into clinical, pathological and extent types.

Clinical types

• Primary optic atrophy
• Secondary optic atrophy
• Consecutive optic atrophy - associated with diseases that affect the inner retina or its blood supply
• Glaucomatous optic atrophy

Pathological types

• Ascending optic atrophy (also known as Wallerian degeneration)
• Descending optic atrophy (or retrograde optic atrophy)

Classification based on extent

• Partial optic atrophy
• Total optic atrophy

Progressive optic atrophy is characterised by slow deterioration of vision over time.

Related conditions

Optic atrophy can develop as a result of an existing or related condition(s) which impact the optic nerve. As such, optic atrophy can be revealing of an underlying health condition such glaucoma, multiple sclerosis as well as indicative of unhealthy lifestyle choices like nutritional deficiencies which can contribute to the development of optic atrophy.

Optic neuritis is an important cause of optic atrophy. It usually occurs in individuals between 10-50 years of age. Patients typically present with sudden, the usually severe visual loss associated with pain on ocular movements.

Symptoms of optic atrophy

The pathophysiology (how a condition affects the body physically) of optic atrophy is characterised by tissue loss or shrinkage at the optic nerve, sometimes where the volume of optic nerve fibres is significantly reduced. The main symptoms of optic atrophy are characterised by vision loss.

Optic atrophy (often referred to as optic nerve atrophy or optic neuropathy) usually causes vision loss in the centre of the visual field, peripheral vision (side vision) and also impacts a person’s ability to see colour. Patients who develop optic atrophy often complain of vision loss with the segmental or diffuse blurring of the visual field.

In children, optic atrophy may cause nystagmus (a shaking movement of the eyes).

Optic atrophy can be identified by optic disc pallor, a denotation of an unhealthy optic nerve. With optic disc pallor, the optic nerve appears pale rather than healthy and normal. This clinical appearance is not a disease itself but it indicates damage to the anterior visual pathway, which can occur in several conditions, including optic atrophy.

Optic atrophy diagnosis

A complete eye exam with an ophthalmologist can help diagnose optic atrophy. The diagnosis process includes:

• Vision test (including acuity, distance and astigmatism assessments)
• Pupil reaction to light
• Checking eye movements for eye crossing or shaking (nystagmus)
• Head positioning for tilting
• Peripheral vision
• Colour tests

An ophthalmologist will also undertake a funduscopic examination as part of an optic atrophy diagnosis test using an ophthalmoscope to inspect the eye. This type of eye exam involves a magnifying lens and a light to check the inside and back surface of the eye. Here, they will look for any changes in colour to the optic nerve and check for optic disc pallor to diagnose optic atrophy.

As optic atrophy can indicate a severe underlying health condition, tests are important to uncover the root cause of the damage. This will influence the next steps in diagnosis.

Prognosis and management of optic atrophy

Unfortunately, there is no treatment to reverse atrophy of the optic nerve. The goal is to diagnose it early and limit further optic nerve damage (if possible). Optic atrophy can lead to complete vision loss, however with certain procedures the effects of optic nerve deterioration can be slowed.

For example, removing excess fluid from around the brain and spinal cord (hydrocephalus) may reduce pressure and help to prevent further optic nerve damage.

Each optic atrophy patient will have a different management protocol to help with their vision. To offer the most accurate advice and provide the best course of action to protect vision, medical professionals must refer to proper history and the patient must attend regular systemic ocular examinations. From there, treatment is tailored to the cause of the ocular atrophy and a multidisciplinary approach is recommended.

For children with optic atrophy, glasses may be prescribed to maximise remaining vision. Depending on the visual challenges presented, magnifier glasses and tinted lenses can provide an appropriate solution to help vision.

Support and management aids

In the UK, guidance on reasonable adjustments for adapting living for people with disabilities like optic atrophy is available via the HMRC website.

Frequently, children with low vision as a result of optic atrophy will need special assistance at school, with a personalised learning programme developed by education specialists, school teachers and low vision specialists.

Experimental treatments

Over the years, scientists have been working on methods to reverse optic atrophy as a treatment for optic atrophy as well as other causes of vision loss. Some experimental treatments for optic atrophy being developed include:

Gene therapy

An experiment at Trinity College, Dublin has shown a new gene therapy to be effective at improving mitochondrial performance in human cells that contained mutations in the OPA1 gene. This gene is responsible for making a protein that is pivotal for maintaining healthy cells in human bodies, which offers hope that it may be effective in people to treat vision loss.

Stem cell treatments

Stem cell therapy is offered by some clinics today, but is not widely available. Research has shown that stem cell therapy can be successful in promoted sustained neuroprotection and regeneration of retinal ganglion cells (RGCs), which are responsible for processing visual stimuli in the brain, after optic nerve injury. This suggests the possibility of preserving optical health.

What do I need to know about optic atrophy?

Optic atrophy is a life-long condition that can encapsulate a range of conditions which differ in types and severity. While rare, according to RNIB, over 2 million people in the UK suffer from sight loss and vision impairment, with optic atrophy as a significant contributor.

Optic atrophy is yet irreversible and therefore uncurable. As such there is no recommended treatment for optic atrophy. Instead, methods of managing the condition are recommended by medical professionals.

In some cases of progressive optic atrophy, where the condition is triggered as a result of a treatable illness that is diagnosed and treated early, optic atrophy can be preventable.

Once diagnosed with optic atrophy, it is important to seek the ongoing advice of a medical professional and follow the guidance of professionals in social care to best manage the condition. This will give patients the best results to maintain eye health and treat any underlying health issues which are the causes of optic atrophy.