Coats disease: Year of the Zebra 2024

Coats disease is a rare eye disorder that causes abnormal development of the blood vessels in the retina. The retina is a layer of tissue at the back of the eye that contains specialized cells called photoreceptors.

These photoreceptor cells are sensitive to light and convert it into electrical signals which are then sent to the brain for visual processing in coats disease.

The blood vessels that supply the retina become dilated or enlarged leading to the formation of retinal telangiectasias, which are the key manifestation of the disorder.

These blood vessels are more fragile and prone to leakage which can result in the accumulation of fluid beneath the retina.

Usually coats. Disease affects young individuals more commonly those assigned male at birth and it typically only affects one eye.

The exact cause is unknown but it may be related to mutations in the NDP gene which codes for a protein involved in the vascular development of the retina.

All right. Now, symptoms of coats disease generally begin in childhood or adolescence and can include blurry vision loss of visual acuity and strabismus or misalignment of the eyes.

Most often, visual problems are related to retinal detachment, which is when the retina peels away from its underlying layer of support tissue, resulting in degeneration of the photoreceptors and eventually vision loss.

Retinal detachment is generally painless and is often accompanied by flashes or floaters in the affected individual's vision.

When the retina detaches, it can also disrupt the normal structure of the eye causing the pupil to appear white or yellow instead of black.

This occurs because the detached retina reflects light differently leading to Leukokoria or a white pupil. As the disorder progresses, there can be secondary complications such as neovascular glaucoma, which is when the newly formed blood vessels block the drainage of fluid from the eye resulting in a painful increase in pressure within the eye.

The diagnosis of coats disease is based on an ophthalmologic evaluation of the retina called a funduscopic examination. Funduscopic examination reveals retinal telangiectasias which are unevenly shaped and twisted blood vessels and accumulation of fluid beneath the retina with or without signs of retinal detachment.

The main differential diagnosis of coats disease is retinoblastoma, a rare type of cancer that develops in the retina and shares many of the clinical manifestations of coats disease in cases where the diagnosis is challenging.

Additional tests may be done including fluorescein angiography, ocular ultrasound MRI or a CT scan of the orbit. Treatment of coats disease varies depending on the severity of the disorder.

Laser therapy is often performed to seal leaking blood vessels and prevent further fluid leakage into the retina. An alternative to laser therapy is cryotherapy which involves freezing the abnormal blood vessels to destroy them.

In cases where retinal detachment has already occurred, surgery may be necessary to restore vision. Finally, individuals may be treated with eye injections of corticosteroids to decrease swelling and antivascular endothelial growth factors or anti vegf for short, like bevacizumab which inhibit the formation of new blood vessels.

All right, as a quick recap coats disease is a rare eye disorder that causes abnormal blood vessels in the retina, resulting in vision loss, strabismus, leukocoria and eye pain diagnosis can be made through funduscopic examination which can reveal retinal telangiectasias and retinal detachment treatment focuses on preventing damage to the retina and may include laser therapy or cryotherapy surgery or eye injections.