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Eye anatomy is complex; let alone the answer to this question. To better understand the cherry-red spot, its characteristics, and more, it is first important to review some main ocular structures.
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.
To enhance this vision, a depression called the fovea is located in the middle of the macula. The fovea consists of specialized nerve cells (referred to as cones) that offer color vision and a sharp perception of details. Depending on an individual’s physical and biological attributes, the fovea can give off a reddish to brownish color.
When no blood vessels are present near the macula, individuals have clear, fine vision.
When a cherry-red spot appears on the macula, it is because the area surrounding the fovea (otherwise known as the perifoveal retina) has suffered an infiltration of accumulated storage materials in the retinal ganglion cells or edema. The retinal ganglion cells help relay visual information to the brain.
When the retinal ganglion cells become infiltrated, the area thickens to form a white patch so that the fovea stands out as a cherry-red spot in the eye.
In cases such as this, an ophthalmologist may consult other healthcare professionals of different specialties to determine the underlying cause. Various life-threatening or sight-compromising health conditions can result in the appearance of the cherry-red spot in the eye.
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When the loss of transparency occurs in the retina (also known as retinal opacification), different disorders or health conditions may be at fault. These disorders can be neurometabolic, including lipid storage diseases as well.
The following is a list of conditions that can result in the appearance of the cherry-red spot in the eye:
When there is a deficiency or absence of a specific enzyme, the body’s cells begin to have an atypical accumulation of different toxic materials. This improper storage of material negatively impacts the body, such as the brain, skeleton, skin, heart, and central nervous system (CNS).
To date, 50 disorders fall under the classification of lysosomal storage diseases, including:
Individuals who experience this condition will have inherited the metabolic disease from both parents carrying the recessive, defective gene.
As mentioned before, 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 an individual does not have or has very little of a specific enzyme to metabolize these substances.
Individuals (mostly children and adolescents) with some form of ML may have the following symptoms, including:
In many cases, those with ML will die.
Healthcare providers may refer to this disease by various names, including:
As two of these names suggest, individuals with sialidosis have a deficiency of neuraminidase 1 (NEU1) or sialidase (SIAL1). NEU1 and SIA1 are enzymes present in the body.
When individuals have sialidosis, healthcare providers will classify the disease into one of two types:
An embolism that blocks the central retinal artery may cause this condition, leading to the sudden loss of unilateral vision in an individual. The blockage-causing material can be cholesterol, fibrin-platelet, or calcium.
Conditions or disorders that can result in the embolism that triggers central retinal artery occlusion (CRAO) include:
Other contributing factors to CRAO include diabetes, hypertension (high blood pressure), smoking, dyslipidemia (atypical amounts of lipids in the blood), and pyoderma gangrenosum (inflammatory skin disease).
This disease has four different types: A, B, C, and D.
Individuals with type 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. Conversely, individuals with type C and D have a mutation in the NPC1 or NPC2 gene, which affects the transport of lipids in cellular components.
Type A disease is pediatric, affecting children and includes severe neurodegeneration. Most of the children with this type will have a cherry-red spot at the macula.
Type B disease will appear during childhood and be less severe than type A. Approximately only one-third of cases with type B will have a cherry-red spot at the macula.
Type C disease will appear more progressively and moderately damage the CNS, affecting speech and swallowing, balance and coordination, and intellectual capacity.
Type D classifies as type C as well. However, the late-onset disease has a more severe impact on the CNS over time. Also, Type D is unique because it occurs in individuals from Nova Scotia of Canada whose ancestor was Acadian. The Type D classification is no longer used.
Tay-Sachs disease classifies as GM2-gangliosidosis type 1. It occurs due to a deficiency of the alpha subunit of hexosaminidase A, which results in 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:
Tay-Sachs disease has an extremely high incidence rate in Ashkenazi Jews, occurring approximately once every 3500 to 4000 births.
Healthcare providers may also refer to GM1 gangliosidosis as generalized gangliosidosis or Landing disease. This disease occurs due to a deficiency of beta-galactosidase and has three different types:
Healthcare providers may refer to GM2 gangliosidosis type as Sandhoff disease as well. This genetic disorder occurs when the beta subunit of hexosaminidase undergoes a mutation at a specific chromosome.
Individuals with this disease will have inherited the defective gene from both parents. In most cases, individuals will present with symptoms or features similar to those found in Tay-Sachs disease, including 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 various physicians and nurse practitioners.
Cherry-red spots at the macular may indicate an underlying condition that could cause more severe health problems. For example, the following list details risks or complications that can accompany the condition:
It is important to remember that while the cherry-red spot may fade away over time, it does not mean that the underlying condition or disorder does not exist. The absence of the macular cherry-red spot is not sufficient criteria to rule out a diagnosis.
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 (including supportive care) to treat the underlying medical condition. This can also include a fundus examination at an ophthalmology clinic to rule out CRAO.
However, if an individual has CRAO, treatment options may include:
It is worth mentioning that no clear evidence has suggested that these treatments will guarantee an improvement in final visual acuity.
Similarly, for individuals with storage disorders, care management may involve cross-specialty coordination and treatments like enzyme replacement therapy, symptomatic control, and avoidance/reduction in specific molecule intake.
“List of Rare Disease Information.” NORD (National Organization for Rare Disorders), 31 Jan. 2019, www.rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/.
“Mucolipidoses Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucolipidoses-Fact-Sheet.
Neurometabolic Disorders, www.aao.org/bcscsnippetdetail.aspx?id=e6c41c8b-f6ac-4dc4-a3a8-2fd71d7a41c5.
Tripathy, Koushik. “Cherry Red Spot.” StatPearls [Internet]., U.S. National Library of Medicine, 8 Aug. 2020, www.ncbi.nlm.nih.gov/books/NBK539841/.