Retinoschisis

Retinoschisis is a rare eye condition characterized by the splitting of the retina’s layers, leading to impaired vision. While it primarily affects males, females can also be affected. The retina, located at the back of your eye, is crucial in converting what you see into electrical signals transmitted to your brain.

When the retina undergoes a split, it leads to the formation of small bumps known as cysts amidst its layers. These cysts pose a threat to the nerves and obstruct the transmission of light signals to the brain. Consequently, the affected nerves can cause blurriness in your vision.

Types of Retinoschisis

This comes in two main forms: acquired and congenital.

1. Acquired Retinoschisis (Degenerative Retinoschisis):
   • This type typically affects individuals in their 50s, 60s, and 70s, earning it the alternate name “senile retinoschisis.” However, it can also occur in younger people.
   • Degenerative retinoschisis can manifest in two ways: flat (typical) or bullous (reticular), which resembles blisters. While distinguishing between the two types can be challenging, the bullous variant is more prone to progressing to retinal holes and detachment.
   • Myopic macular schisis, also known as myopic traction maculopathy or myopic foveoschisis, is a subtype of degenerative retinoschisis. It involves a split in the retinal layer at the fovea, the central area of the macula. This occurs primarily in individuals with severe nearsightedness (myopia).
2. Congenital Retinoschisis:
   • This form is present from birth and is termed juvenile X-linked retinoschisis. It typically affects both eyes.
   • Congenital retinoschisis predominantly impacts individuals assigned male at birth (AMAB). While their mothers may carry the gene, they often do not develop the condition themselves.

Causes

• Congenital retinoschisis is often caused by a genetic mutation inherited from your parents, particularly through the X-linked gene inherited from your mother.
• The exact cause of acquired retinoschisis remains unknown. However, the risk tends to increase with age, particularly after reaching 40 years old

Symptoms

Symptoms can vary, and you may not experience any at all. Here are some symptoms associated with both juvenile X-linked and acquired retinoschisis:

Juvenile X-linked retinoschisis may present with:

1. Crossed eyes (strabismus).
2. Involuntary eye movements from side to side (nystagmus).
3. Loss of central (foveal) vision or peripheral vision, depending on the location of the retinal split.
4. Farsightedness.

For acquired retinoschisis, symptoms may include:

1. Blurred vision on the sides (loss of peripheral vision).
2. Some individuals may remain asymptomatic.

In severe cases of retinoschisis or when it coexists with retinal detachment, you may notice:

1. Floaters and flashes in your vision.
2. Distorted images.
3. Loss of central (foveal) vision or peripheral vision, depending on the location of the retinal split.

Risk Factors

While this eye condition is primarily genetic, certain factors may increase the risk of developing the condition. These include:

• Family history of retinal disorders
• Male gender (this eye condition is more common in males)
• High myopia (severe nearsightedness)
• Previous eye trauma or surgery

Prevalence

Researchers estimate that juvenile X-linked retinoschisis, also known as congenital retinoschisis, occurs in approximately 1 in 5,000 to 1 in 25,000 individuals.

As for degenerative retinoschisis:

• It affects roughly 4% of people over the age of 40, according to some estimates.
• However, another estimate suggests a prevalence of 1% to 4% among individuals over the age of 50.

Diagnosis

Juvenile X-linked retinoschisis is typically diagnosed by an ophthalmologist, a specialized doctor focusing on eye diseases. Following a comprehensive eye examination, you’re likely to undergo several tests to confirm the diagnosis:

1. Ophthalmoscopy (or fundoscopy): This involves using an ophthalmoscope, a specialized instrument, to examine your eyes, particularly the retinas.
2. Optical Coherence Tomography (OCT): A non-invasive imaging technique that employs reflected light to capture detailed images of the back of your eye.
3. B-scan Ultrasonography: This type of ocular ultrasound utilizes sound waves to create images of the back of your eye without invasion.
4. Electroretinography (ERG): This test evaluates how your eyes respond to flashing lights, providing valuable information to your doctor.
5. Angiography: This test involves using dyes like fluorescein or indocyanine green to capture images of the blood vessels in your retina, aiding in diagnosis.
6. Genetic Testing: If juvenile X-linked retinoschisis is suspected, genetic tests may be recommended by your provider to confirm the diagnosis.

Treatment

Treatment for this eye condition focuses on management rather than cure. While the condition cannot be cured, there are strategies to help manage its effects. Here’s how this eye condition is typically addressed:

1. Vision Correction: Glasses or other low vision aids may be prescribed to assist with vision impairment caused by retinoschisis. This is especially common for addressing refractive errors like nearsightedness or farsightedness.
2. Acquired Retinoschisis: In cases where retinoschisis is acquired and considered benign, treatment may not be necessary. However, vision correction with glasses might still be recommended.
3. Juvenile X-Linked Retinoschisis: Similar to acquired retinoschisis, glasses for refractive errors may be required for individuals with juvenile X-linked retinoschisis.
4. Bleeding in the Eyes: If bleeding occurs due to broken blood vessels, cryoablation (cold therapy) or laser therapy may be suggested by your healthcare provider to halt the bleeding.
5. Retinal Detachment: In the event of retinal detachment, surgical intervention is necessary to reattach the retina and restore vision.

Researchers are actively exploring potential treatments for juvenile X-linked retinoschisis, including:

• Gene Therapy
• Stem Cell Therapy
• Dorzolamide: This drug is being investigated for its efficacy in treating the condition.

While these treatments are still under investigation, they offer hope for improved management and outcomes for individuals with juvenile X-linked retinoschisis.

Home Care Remedies

While home remedies cannot treat this eye condition, certain lifestyle modifications can help maintain eye health and optimize vision. These include:

• Eating a balanced diet rich in nutrients that support eye health, such as vitamins A, C, and E, as well as omega-3 fatty acids.
• Protecting the eyes from injury by wearing appropriate eye protection during sports or activities that pose a risk of trauma.
• Quitting smoking, as smoking is a risk factor for various eye conditions, including retinal disorders.

Prevention

Since this eye condition is primarily genetic, prevention strategies focus on early detection and management. Regular eye examinations, particularly for individuals with a family history of retinal disorders, can facilitate early diagnosis and intervention, potentially minimizing vision loss.

What sets retinal detachment apart from retinoschisis?

Retinal detachment occurs when the retina detaches from the supportive tissues, whereas this eye condition involves splitting the retina. While distinguishing between the two may be challenging, diagnostic testing aids healthcare providers in making accurate diagnoses.

It’s worth noting that individuals may experience both retinal detachment and retinoschisis simultaneously, particularly in cases of the congenital form.

When to See a Doctor

If you experience any changes in your vision, such as blurriness, distortion, or loss of peripheral vision, it’s essential to see an eye care professional promptly. Early detection and treatment can help preserve vision and prevent complications associated with this eye condition.

Outlook/Prognosis

The outlook for individuals with this eye condition varies depending on the severity of the condition and the presence of complications such as retinal detachment. With appropriate management, many people with this eye condition can maintain stable vision and lead fulfilling lives. However, regular monitoring and adherence to treatment recommendations are essential for optimizing outcomes.

Sources

1. American Academy of Ophthalmology. (2021). Retinoschisis.
2. National Eye Institute. (2022). Facts About Retinoschisis.
3. Saraiva, V. S., & Sallum, J. M. F. (2020). Update on congenital hereditary retinoschisis. Arquivos Brasileiros de Oftalmologia, 83(3), 273-279.
4. National Organization for Rare Disorders. Retinoschisis 
5. Foundation of American Society of Retina Specialists. Congenital X-Linked Retinoschisis