Cherry Red Spot

7 sources cited
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What Is a Cherry Red Spot?

A cherry red spot is a symptom associated with many eye diseases. It is a small circular red dot that appears in the center of the macula of the eye. The macula surrounding it is generally opaque.

A cherry red spot is produced when ganglion cells are filled with lipid degenerate.

If your eye doctor sees a cherry red spot during an eye examination they will investigate it to find the underlying cause.

Common eye conditions that can cause cherry red spots are:

  • Lysosomal Storage Diseases
  • Mucolipidosis
  • Sialidosis
  • Central Retinal Artery Occlusion
  • Niemann-Pick Disease
  • Tay-Sachs Disease
  • GM1 Gangliosidosis
  • Sandhoff disease

What Does a Cherry Red Spot on Macula Look Like? 

Image of Cherry Red Spot By Achim Fieß, Ömer Cal, Stephan Kehrein, Sven Halstenberg, Inez Frisch, Ulrich Helmut Steinhorst
Image of Cherry Red Spot

Macula vs Fovea

There is a small, yellowish area called the macula lutea that sits in the retina in the eye. The macula is important because it provides central vision. 

Blausen.com staff (2014)

There's also the fovea. The fovea consists of cones that allow color vision and sharp perception of details.

The macula is the center part of the retina. The fovea is a depression in the center of the macula.

The fovea can give off a reddish to brownish color depending on the person.

When no blood vessels are present near the macula, a person has clear, fine vision.

What Causes a Cherry Red Spot on the Eye

When a cherry red spot appears on the macula, it's because of lipid storage disorders. This is when the area around the fovea accumulates fats in the retinal ganglion cells or edema.

Retinal ganglion cells help relay visual information to the brain. 

When the retinal ganglion cells become clouded by these fats, the area thickens to form a white patch. The fovea stands out as a cherry red spot in the eye. 

Many life or vision-threatening health conditions can cause a cherry-red spot.

An eye doctor may consult doctors in other specialties to determine the underlying cause.

The following conditions can cause a cherry red spot in the eye:

Lysosomal Storage Diseases

These diseases occur when your body lacks a specific enzyme. The body's cells begin to accumulate toxic materials. This accumulation can negatively impact the brain, skeleton, skin, heart, or central nervous system (CNS). 

There are 50 different types of lysosomal storage diseases, including:

  • Aspartylglucosaminuria
  • Batten Disease
  • GM2-Gangliosidosis Type I (Tay-Sachs Disease)
  • GM2-Gangliosidosis Type II (Sandhoff Disease)
  • Mucolipidosis Types I, II/III and IV
  • Niemann-Pick Disease Types A/B, C1 and C2
  • Schindler Disease Types I and II

Mucolipidosis

Mucolipidosis (ML) has different categorization types (I, II/III, and IV).

An example of an ML is sialidosis (classified as ML I).

ML causes carbohydrates and lipids (fatty materials) to build up in cells at an unsafe amount. This occurs when someone doesn't have enough of a specific enzyme to metabolize these substances. 

People with some form of ML may have the following symptoms:

  • Mild learning disabilities 
  • Severely impaired intellectual capacity 
  • Skeletal deformities 
  • Vision issues 
  • Delay in physical development 

Sialidosis

Healthcare providers may refer to this disease by various names, including:

  • Mucolipidosis type I
  • Alpha-neuraminidase deficiency 
  • Sialidase deficiency 
  • Lipomucopolysaccharidosis 

People with sialidosis have a deficiency of neuraminidase 1 (NEU1) or sialidase (SIAL1). NEU1 and SIA1 are enzymes present in the body.  

Doctors classify the disease into one of two types:

Sialidosis type I

This sub-classification also goes by cherry red spot myoclonus syndrome.

The name refers to the cherry red spot at the macula, which appears with the disease.

Symptoms of sialidosis type I include:

  • Gait disturbance (issues walking)
  • Myoclonus (involuntary muscle twitching or jerking)
  • Tremors
  • Seizures
  • Ataxia (difficulties in balance and coordination).

Sialidosis type II

Doctors use this sub-classification based on the early, more severe onset of the disease.

It can be:

  • Congenital (typically causes stillbirth or death after birth)
  • Infantile (possible survival into adolescence)
  • Juvenile in nature (life expectancy varies, and this is the mildest form of the disease).

It can also include psychomotor retardation. 

Central Retinal Artery Occlusion

An embolism that blocks the central retinal artery may cause this condition. This leads to the sudden loss of unilateral vision.

The blockage-causing material can be cholesterol, fibrin-platelet, or calcium. 

Conditions that can cause the embolism that triggers central retinal artery occlusion (CRAO) include:

  • Giant cell arteritis (GCA)
  • Myxoma (non-cancerous tumor) or abnormal growths in the cardiac valves
  • Thrombophilic disorders, such as hemophilia or sickle cell disease
  • Retinal migraine

Other contributing factors to CRAO include diabetes, hypertension (high blood pressure), smoking, dyslipidemia, and pyoderma gangrenosum. 

Niemann-Pick Disease

This disease has three different types: A, B, and C

People with types A and B have a deficiency of the enzyme acid sphingomyelinase. This causes a build-up of sphingomyelin (a type of sphingolipids) in the tissues.

People with type C have a mutation in the NPC1 or NPC2 gene. This affects the transport of lipids in cellular components.  

Type A disease affects children and involves severe neurodegeneration. Most with this type will have a cherry red spot at the macula. 

Type B disease appears during childhood and is less severe than type A. Approximately one-third of cases with type B will have a cherry red spot at the macula. 

Type C disease will appear more slowly and moderately damage the CNS. It may affect speech, swallowing, balance and coordination, and intellectual capacity.  

Tay-Sachs Disease

Tay-Sachs disease classifies as GM2-gangliosidosis type 1. It occurs due to a deficiency of the alpha subunit of hexosaminidase A. This causes the build-up of gangliosides in the brain and ganglion cell layer of the retina. 

Many children with this neurodegenerative disorder will die between 2 to 5 years after being born.

Symptoms of Tay-Sachs disease include:

  • Macular cherry red spot 
  • Poor head control
  • Seizures
  • Dementia 
  • Apathy
  • Hypotonia (low muscle tone and diminished muscle strength)
  • Blindness 
  • Deafness
  • Late hypertonia (excessive muscle tone and stiffness)

Tay-Sachs disease has an extremely high incidence rate in Ashkenazi Jews. It occurs in approximately once every 3500 to 4000 births. 

GM1 Gangliosidosis

Doctors may refer to GM1 gangliosidosis as generalized gangliosidosis or Landing disease. This disease occurs due to a deficiency of beta-galactosidase.

There are three different types:

Type I

This is the infantile form of the disease, being severe at the onset. Symptoms of this type include an increased startle response, skeletal anomalies, mental retardation, seizures, macular cherry red spot, and more. Death occurs during early childhood. 

Type II

This sub-classification of the disease is less severe and presents from 18 months to 5 years of age. The cherry red spot at the macula is typically not present. 

Type III

This form is the mildest among all three types. It causes uncontrollable muscle contractions and vertebral anomalies. Life expectancy and age at disease onset will vary. 

GM2 Gangliosidosis

Doctors may refer to GM2 gangliosidosis as Sandhoff disease. This genetic disorder occurs when the beta subunit of hexosaminidase undergoes a mutation at a specific chromosome. 

This disease is inherited from the defective gene of both parents.

Most case present with symptoms similar to those found in Tay-Sachs disease. This includes the macular cherry red spot.

Because a cherry red spot can appear due to many disease-related causes, proper diagnosis and treatment may come at the recommendations of an interprofessional team of medical professionals.

Potential Risks & Complications of Cherry Red Spots

Cherry red spots are a symptom of an underlying condition that could cause more severe health problems.

Additional risks or complications include:

  • Box-carring (fragmented blood column in retinal vessels)
  • Embolus (blockage-causing material) present in the central retinal artery or its branches
  • Retinal thinning 
  • Pigmentary changes in the fovea 
  • Optic atrophy (affects the optic nerve and could result in vision problems or blindness)

The cherry red spot may fade away over time. This doesn't mean that the underlying condition or disorder doesn't exist.

The absence of the macular cherry red spot is not sufficient to rule out a diagnosis. 

Treatment for Macular Cherry Red Spot

As mentioned before, a macular cherry red spot can occur due to several causes. Healthcare providers will perform a differential diagnosis to provide the appropriate treatment.

This can also include a fundus examination at an ophthalmology clinic to rule out CRAO.

However, if someone has CRAO, treatment options may include:

  • Ocular massage 
  • Anterior chamber paracentesis 
  • Reduce intraocular pressure with systemic or topical medications 
  • Hyperbaric oxygen therapy 
  • Intraarterial thrombolysis 

It's worth mentioning that no clear evidence suggests these treatments guarantee an improvement in vision.

For those with storage disorders, care management may involve treatments like:

  • Enzyme replacement therapy
  • Symptom control
  • Reduction in specific molecule intake
7 Cited Research Articles
  1. List of Rare Disease Information.NORD (National Organization for Rare Disorders), 31 Jan. 2019.
  2. Mucolipidoses Fact Sheet.National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services.
  3. Neurometabolic Disorders.
  4. Tripathy, Koushik. “Cherry Red Spot.” StatPearls [Internet].", U.S. National Library of Medicine, 8 Aug. 2020.
  5. Sebag, J. What Is the Macula? VRM Institute (Vitreous, Retina, Macula).
  6. National Eye Institute. Age-related macular degeneration: What you should know. National Eye Institute: NIH publication 03-2294.
  7.  
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