Coats Disease: Understanding the Rare Eye Condition and its Impact

Medically reviewed by Tina Patel, Contact Lens Optician at Feel Good Contacts on 17 August 2023.

• What is Coats disease?
• Is it a rare condition?
• What are the causes and risk factors of Coats disease?
• What are the symptoms of Coats disease?
• How to diagnose Coats disease?
• What are the treatment options for Coats disease?
• How to cope with Coats disease?
• What is the research and future outlook on Coats disease?

What is Coats disease?

Coats disease is a rare progressive eye condition that generally affects males. In 1908, George Coats first identified this unilateral disease, characterised by unusually web-shaped blood vessels (retinal telangiectasia and aneurysms) and liquid leakage (exudation) in the eye. It can lead to a retinal detachment. Coats disease treatment primarily focuses on preventing further vision loss and managing symptoms. Early detection and treatment are critical to ensure the best possible outcome.

Is it a rare condition?

Most notably, the incidence rate of Coats disease is only 0.09 per 100,000 population. It is usually diagnosed in children before the age of 10 years, though it can sometimes be present at birth. Coats disease can also occasionally present in adulthood.

What are the causes and risk factors of Coats disease?

Unfortunately, the exact cause of Coats disease is currently unknown. However, scientists are investigating potential genetic irregularities, such as a mutation in the Norrie disease protein (NDP) gene, as one of the possible causes. There are no known risk factors associated with this disease as of now

What are the signs and symptoms of Coats disease?

Occasionally, leukocoria, an unusual white light reflection from the pupil can be seen as one of the first signs. Reduced vision, eye misalignment (strabismus) and pain caused by increased eye pressure are all considered to be symptoms of Coats disease. Other clinical signs may include abnormal blood vessels in the peripheral retina, retinal exudates or swelling, and retinal detachment in severe cases.

How to diagnose Coats disease?

Coats disease is diagnosed by direct examination of the retinal vessels. Furthermore, to confirm the diagnosis, additional imaging techniques like ultrasound, fluorescein angiography, optical coherence tomography (OCT), and OCT angiography (OCTA) can also be used.

It is important to understand and identify the difference between Coats disease and retinoblastoma as leukocoria (white light reflection from the pupil) can be seen in both eye conditions.

What are the treatment options for Coats disease?

As Coats disease is a progressive condition that can grow over time, it is crucial to treat it in the early stage to slow its progression. The treatment modalities primarily focus on managing abnormal blood vessels characterising the disease.

Below are the potential treatments for Coats disease depending on the severity:

• Cryotherapy- this procedure involves using extreme cold to form a scar around the abnormal blood vessels, this helps stop further leakage
• Photocoagulation- this treatment includes laser energy to destroy the leaky blood vessels through heat
• Steroid administration- steroids can often be used alongside cryotherapy or photocoagulation to control inflammation and reduce blood vessel leakage
• Anti-VEGF injections- (anti-vascular endothelial growth factor injections) can decrease the formation of abnormal, leaky blood vessels. It also reduces the risk of a possible retinal detachment
• Vitrectomy- this procedure includes removal of the jelly-like substance inside the eye and is replaced with a saline solution and helps prevent a more severe retinal detachment

How to cope with Coats disease?

Emotional and psychological support is as vital as a medical intervention for Coats disease patients. Networking platforms where families can share experiences and seek guidance play a paramount role. Further development and promotion of such platforms will enhance affected individuals' overall quality of life.

What is the research and future outlook on Coats disease?

Researchers are delving deep into understanding Coats disease. Several institutions worldwide are conducting clinical trials to identify novel treatments and strategies for early detection. These trials investigate various approaches, including advanced laser therapies, new drug formulations, and gene therapies.

Recent advancements in molecular biology have raised hopes for breakthroughs in Coats disease treatment. By studying the genetic factors that might predispose individuals to the disease, researchers are optimistic about developing gene-targeted treatments.

Raising awareness is crucial for early diagnosis and increased funding would provide more support for research.

If you suspect any symptoms of Coats disease, prompt consultation with an ophthalmologist is vital. Early diagnosis can help detect this condition at the right time and pursue the relevant course of treatment accordingly.