Coats Disease , (also known as retinal exudative or retinal telangiectasis , sometimes spelled Coates's Disease ), is congenital, non-rare, congenital eye disorders, causing full or partial blindness, characterized by abnormal development of the blood vessels behind the retina. Coats diseases can also fall under glaucoma.
It can have a presentation similar to retinoblastoma.
Video Coats' disease
Signs and symptoms
The most common sign of presentation is leukocoria (abnormal white reflection of the retina). Symptoms usually begin as blurred vision, usually spoken when one eye is closed (due to the unilateral nature of the disease). Often the unaffected eye will compensate for the loss of vision in the other eye; However, this leads to loss of perception of depth and parallax. Decreased vision can be initiated either in central or peripheral vision. The deterioration is likely to begin at the top of the field of vision because it relates to the bottom of the eye where the blood is usually assembled. Flashes of light, known as photopsia, and floaters are a common symptom. The settled color pattern can also be felt in the affected eye. Initially, this may be mistaken for psychological hallucinations, but actually the result of both the retinal release and the foreign fluid mechanically interact with the photoreceptor located in the retina.
One of the earliest warning signs of Coats disease is the yellow eye in flash photography. Just like the red eye effect caused by the reflection of the blood vessels in the back of the normal eye, Coats affected eyes will glow yellow in the photo because the light reflects cholesterol deposits. Children with yellow eyes in the photo are usually advised to seek immediate evaluation of an ophthalmologist or ophthalmologist, who will assess and diagnose the condition and refer to a vitreo-retinal specialist.
Coats disease itself does not cause pain. Pain can occur if fluid can not flow from the eye properly, causing internal pressure to swell, resulting in painful glaucoma.
Presentations
Coats' typically affect only one eye (unilateral) and occur mainly in young men 1/100,000, with the onset of symptoms that generally appear in the first decade of life. The peak age of onset is between 6-8 years, but the onset may range from 5 months to 71 years.
Coats disease results in gradual loss of vision. Blood leaks from the abnormal vessels to the back of the eye, leaving cholesterol deposits and damaging the retina. Coats disease usually develops slowly. At an advanced stage, retinal detachment may occur. Glaucoma, atrophy, and cataracts can also develop secondary to Coats disease. In some cases, eye removal may be necessary (enucleation).
Coats disease is a rare extramuscular complication of facioscapulohumeral muscle dystrophy (FSHD), and has been reported in about 1 percent of patients in the US FSHD registry. Statland, et. al, report that Coats disease is associated with large D4Z4 contractions in Type 1 FSHD patients. The authors recommend closer surveillance for retinal complications in FSHD Type 1 patients with D4Z4 fragments shorter than 15 kb.
Maps Coats' disease
Pathogenesis
Coats disease is thought to originate from the breakdown of the blood-retina barrier in endothelial cells, resulting in leakage of blood products containing cholesterol crystals and fat-laden macrophages to the retina and subretinal space. Over time, the accumulation of this nutritious exudate thickens the retina, leading to the release of exudative large retinas.
Diagnosis
On examination of the funduscopic eye, the retinal vessels in the initial Coats disease appear to be winding and dilated, especially limited to the peripheral and temporal portions of the retina. In moderate to severe Coats disease, large retinal detachments and bleeding from abnormal vessels can be seen.
Imaging findings
Imaging studies such as ultrasonography (US), Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) can help diagnose. In ultrasound, Coats disease appears as hyperechoic mass in posterior vitreous without posterior acoustic shadow; vitreous and subretinal bleeding can often be observed.
In CT, the world appears hyperdense compared with normal vitreous because of protein-containing exudates, which can obliterate vitreous space in advanced disease. The anterior margin of the subretinal exudate increases the contrast. Because the retina remains posterior to the optical disc, this enhancement has a V-shaped configuration.
In MRI, subretinal exudates show high signal intensity on both T1- and T2-weighted images. Exudate may appear heterogeneous if there is haemorrhage or fibrosis. Subretinal space does not increase with gadolinium contrast. A mild to moderate linear improvement can be seen between exudates and residual vitreous. Exudate shows a large peak at 1-1.6 ppm on MR spectroscopy of protons.
Pathological findings
Roughly, retinal detachment and yellowish subretinal exudates containing cholesterol crystals are often seen.
Microscopically, the walls of the retinal vessels may be thickened in some cases, while in other cases the walls may be thinned with irregular lumen dilatation. Subretinal exudate consists of cholesterol crystals, macrophages containing cholesterol and pigment, erythrocytes, and hemosiderin. The granulomatous reaction, induced by exudates, can be seen with the retina. The part of the retina may develop gliosis in response to injury.
Treatment
In the early stages, there are several treatment options. Laser surgery or cryotherapy (freezing) can be used to destroy abnormal blood vessels, thus stopping the progression of the disease. However, if leaking blood vessels cluster around the optic nerve, this treatment is not recommended because accidental damage to the nerve itself can cause permanent blindness. Although Coats disease tends to develop into loss of vision, it can stop growing on its own, either temporarily or permanently. Cases have been documented where the condition even reverses itself. However, once total retinal release occurs, loss of vision is permanent in most cases. Eye removal (enukleasi) is an option when further pain or complication arises.
History
Coats disease is named after George Coats.
References
External links
- GeneReviews/NIH/NCBI/UW entered in the Related NP Retinopathy
- http://www.orpha.net/data/patho/GB/uk-Coats.pdf
Source of the article : Wikipedia
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