Coats' disease

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Coats' disease
Classification and external resources

Clinical photography of patient with Coats' disease, showing conjunctival hyperemia, mild corneal edema, posterior synechiae and cataract.

ICD-10

H35.0

ICD-9

362.12

OMIM

300216

DiseasesDB

31162

Coats disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates' disease), is a very rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina. It can have a similar presentation to that of retinoblastoma.[1]

Contents
[hide]

1 Presentation

2 Signs and Symptoms 3 Pathogenesis 4 Diagnosis o 4.1 Imaging findings o 4.2 Pathologic findings 5 Treatment 6 History 7 References 8 External links

[edit] Presentation
Coats usually affects only one eye (unilateral) and occurs predominantly in young males, with the onset of symptoms generally appearing in the first decade of life. Peak age of onset is between 6-8 years of age, but onset can range from 5 months to 71 years.[2][3] Coats disease results in a gradual loss of vision. Blood leaks from the abnormal vessels into the back of the eye, leaving behind cholesterol deposits and damaging the retina. Coats normally progresses slowly. At advanced stages, retinal detachment is likely to occur. Glaucoma, atrophy, and cataracts can also develop secondary to Coats disease. In some cases, removal of the eye may be necessary (enucleation).

[edit] Signs and Symptoms

The most common sign at presentation is leukocoria (abnormal white reflection of the retina).[2] Symptoms typically begin as blurred vision, usually pronounced 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 results in some loss of depth perception and parallax. Deterioration of sight may begin in either the central or peripheral vision. Deterioration is likely to begin in the upper part of the vision field as this corresponds with the bottom of the eye where blood usually pools. Flashes of light, known as photopsia, and floaters are common symptoms. Persistent color patterns may also be perceived in the affected eye. Initially, these may be mistaken for psychological hallucinations, but are actually the result of both retinal detachment and foreign fluids mechanically interacting with the photoreceptors located on the retina. One early warning sign of Coats disease is yellow-eye in flash photography. Just as the red-eye effect is caused by a reflection off blood vessels in the back of a normal eye, an eye affected by Coats will glow yellow in photographs as light reflects off cholesterol deposits. Children with yellow-eye in photographs are typically advised to immediately seek evaluation from an optometrist or ophthalmologist. Coats disease itself is painless. Pain may occur if fluid is unable to drain from the eye properly, causing the internal pressure to swell, resulting in painful glaucoma.

[edit] Pathogenesis
Coats' disease is thought to result from breakdown of the blood-retinal barrier in the endothelial cell, resulting in leakage of blood products containing cholesterol crystals and lipid-laden macrophages into the retina and subretinal space. Over time, the accumulation of this proteinaceous exudate thickens the retina, leading to massive, exudative retinal detachment.[2][4]

[edit] Diagnosis
On funduscopic eye examination, the retinal vessels in early Coats' disease appear tortuous and dilated, mainly confined to the peripheral and temporal portions of retina.[2] In moderate to severe Coats' disease, massive retinal detachment and hemorrhage from the abnormal vessels may be seen.[2][5]

[edit] Imaging findings

Computed Tomography image of a patient with Coats' disease, showing total exsudative retinal detachment in the right eye. Imaging studies such as ultrasonography (US), Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) can aid diagnosis. On ultrasound, Coats' disease appears as a hyperechoic mass in the posterior vitreous without posterior acoustic shadowing; vitreous and subretinal hemorrhage may often be observed.[6][7] On CT, the globe appears hyperdense compared to normal vitreous due to the proteinaceous exudate, which may obliterate the vitreous space in advanced disease. The anterior margin of the subretinal exudate enhances with contrast. Since the retina is fixed posteriorly at the optic disc, this enhancement has a V-shaped configuration.[2] On MRI, the subretinal exudate shows high signal intensity on both T1- and T2-weighted images. The exudate may appear heterogeneous if hemorrhage or fibrosis is present. The subretinal space does not enhance with gadolinium contrast. Mild to moderate linear enhancement may be seen between the exudate and the remaining vitreous. The exudate shows a large peak at 1-1.6 ppm on proton MR spectroscopy.[8]

[edit] Pathologic findings

A case of Coats' disease, showing total retinal detachment with subretinal exudate containing cholesterol crystals and a fibrous nodule in the posterior pole.

Grossly, retinal detachment and yellowish subretinal exudate containing cholesterol crystals are commonly seen.

A case of Coats' disease, showing total exsudative retinal detachment, and subretinal exudate containing cholesterol crystals (H&E). Microscopically, the wall of retinal vessels may be thickened in some cases, while in other cases the wall may be thinned with irregular dilatation of the lumen.[9] The subretinal exudate consists of cholesterol crystals, macrophages laden with cholesterol and pigment, erythrocytes, and hemosiderin.[10] A granulomatous reaction, induced by the exudate, may be seen with the retina.[11] Portions of the retina may develop gliosis as a response to injury.

[edit] Treatment
In the early stages, there are a few treatment options. Laser surgery or cryotherapy (freezing) can be used to destroy the abnormal blood vessels, thus halting progression of the disease. However, if the leaking blood vessels are clustered around the optic nerve, this treatment is not recommended as accidental damage to the nerve itself can result in permanent blindness. Although Coats disease tends to progress to visual loss, it may stop progressing on its own, either temporarily or permanently. Cases have been documented in which the condition even reverses itself. However, once total retinal detachment occurs, sight loss is permanent in most cases. Removal of the eye (enucleation) is an option if pain or further complications arise.

[edit] History
Coats' disease is named after George Coats.[12][13]

Classification and management of Coats disease: the 2000 Proctor Lecture.

Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

Abstract
PURPOSE: To review the methods and results of management in a large series of patients with Coats disease, to determine risk factors for poor visual outcome and enucleation, and to propose a practical classification of Coats disease. METHODS: In a retrospective consecutive series in 150 patients, Coats disease was defined as idiopathic retinal telangiectasia with intraretinal or subretinal exudation without appreciable signs of retinal or vitreal traction. We reviewed our experience with management, including observation, laser photocoagulation, cryotherapy, and various techniques of retinal detachment surgery and enucleation. The anatomic outcome, complications of treatment, visual results, and reasons for enucleation were tabulated. Factors predictive of poor visual outcome (20/200 or worse) and enucleation were determined using Cox proportional hazards regression models. Based on these observations, a staging classification of Coats disease, applicable to treatment selection and ocular prognosis, is proposed. RESULTS: In 117 patients (124 eyes) with a mean follow up of 55 months (range, 6 months to 25 years) primary management was observation in 22 eyes (18%), cryotherapy in 52 (42%), laser photocoagulation in 16 (13%), various methods of retinal detachment surgery in 20 (17%), and enucleation in 14 (11%). Anatomic improvement or stability was achieved in 76% of eyes, and final visual acuity was 20/50 or better in 17 eyes (14%), 20/60 to 20/100 in eight (6%), 20/200 to finger counting in 30 (24%), and hand motion to no light perception in 49 (40%) Enucleation was ultimately necessary in 20 eyes (16%). Risk factors predictive of poor visual outcome (20/200 or worse) included postequatorial (P =.01), diffuse (P =.01), or superior (P =.04) location of the telangiectasias and exudation, failed resolution of subretinal fluid after treatment (P =.02), and presence of retinal macrocysts (P =.02). The main risk factors for enucleation were elevated intraocular pressure (greater than 22 mm Hg; P less than or equal to.001) and iris neovascularization (P less than or equal to.001). Coats disease was classified into stage 1, telangiectasia only; stage 2, telangiectasia and exudation (2A, extrafoveal exudation; 2B, foveal exudation) stage 3, exudative retinal detachment (3A, subtotal; 3B, total); stage 4, total detachment and secondary glaucoma; and stage 5, advanced end-stage disease. Poor visual outcome (20/200 or worse) was found in 0% of eyes with stage 1, 53% with stage 2, 74% with stage 3, and 100% of stages 4 and 5 Coats disease. Enucleation was ultimately necessary in 0% of stages 1 and 2, 7% of stage 3, 78% of stage 4, and 0% of stage 5 disease. CONCLUSIONS: Carefully selected treatment can anatomically stabilize or improve the eye with Coats disease in 76% of eyes. However, poor visual outcome of 20/200 or worse commonly results. Patients who present with stages 1 to 3 Coats disease have the best visual prognosis, and patients with stages 4 and 5 have a poor visual prognosis.

Coats' disease was first identified by Scottish opthalmologist George Coats in 1908. For a brief biography of Dr. Coats, here is a link: http://www.whonamedit.com/doctor.cfm/1926.html
In June of 2005, our 3 year old son Jacob was diagnosed with Late Stage 4 Coats' Disease. He will not regain the vision in his right eye with the treatments available today. We started this website with the hopes of providing information for parents who are just learning about Coats' Disease. We also wanted to provide a forum for parents to share their stories, to ask their questions, and get support from some of the amazing parents that post on our message board. It is our sincere hope that you find some answers to your questions here, and we would love to hear from you. It is now April of 2010, and Jacob is doing great. He still has his Coats' eye, although it is completely covered with a cataract. Removing the cataract would only be for cosmetic purposes, so we will leave it for now. Jacob is a completely normal 7 year old boy (almost 8!). He is doing great in school, and is now finishing up 3rd grade. He is doing extremely well with his school work and his social skills. We are so proud of what and who he has become.

What is Coats' Disease?

Coats' disease is also known as Coats' Retinitis, Coats' Syndrome, Exudative Retinitis, and Retinal Telangiectasis. There is some evidence to suggest that Coats' Disease is caused by a somatic mutation of the NDP gene. (Norrie Disease Protein). You can search this link ( http://www.sph.uth.tmc.edu/Retnet/disease.htm ) for "NDP", to find the gene loaction. Coats disease is a very rare condition where there is abnormal development in the blood vessels behind the retina. The blood rich retinal capillaries break open, leaking the serum portion of the blood into the back of eye. The leakage causes the retina to swell, and can cause partial or complete detachment of the retina. Coats' disease is seen predominantly in males, about 69 percent of the cases. It progresses gradually and affects central vision. It is almost always unilateral (affects only one eye). If caught early, some level of vision can typically be restored. If not caught until it's late stages, complete loss of vision can occur. In it's final stages, enucleation (removal of the affected eye) is a potential outcome.

For an excellent resource, packed with links to research papers (some pretty technical) , go here: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300216

The 5 stages of Coats' Disease

As you read through the stages, it may help if you first open this link in another browser window. You can keep it minimized, and pull it up when you want to see a particular part of the eye.
http://www.stlukeseye.com/anatomy/AngleStructures.asp

Stage 1 (telangiectasia only):

This stage is typically treated with Laser Therapy. In Stage 1, there is a high probability that some (or most) vision can be saved. Unfortunately, Coats Disease is rarely caught in Stage 1. Coats typically begins to progress at an age where the child eith er does not understand or cant explain the symptoms. Onset of the disease can happen as early as 12 months.

Stage 2 (telangiectasia and exudate):

This stage is typically treated with either Laser Photocoagulation or Cryotherapy, depending on the extent of the leakage, and the preferences of the doctor. If the exudate is limited to one quadrant, a good percentage of vision may be restored. This stage is divided into stages 2a and 2b:

In stage 2a, the chances of restoring some level of vision are pretty good, because the fovea is not yet involved. (The fovea is the center most part of the macula. This tiny area is responsible for our central, sharpest vision. A healthy fovea is critical for reading, watching television, driving, and other activities that require the ability to see detail.) In stage 2b, vision can still be restored if the fovea is not heavily affected. If the fovea has a dense yellow nodule in the center (this is the yellow eye seen in pictures), visual prognosis is not nearly as good.

Stage 3 (subretinal or retinal detachment).This stage is also divided into stages 3a and 3b.

In stage 3 a, Laser therapy or Cryotherapy can still be used. Because of the subretinal fluid, Laser treatment is not as effective as Cryotherapy.

In stage 3b, the retina is totally detached. Cryotherapy may be useful if the retinal detachment is shallow. Surgery to re-attach the retina may be required if the detachment is advanced and posterior to the lens.

Stage 4 (Total retinal detachment and glaucoma): There is most likely no chance for recovery of vision at this stage. In cases diagnosed at this stage, the damage to the retina is severe. A large percentage of cases that are diagnosed at this stage result in enucleation (removal of the eye), due to extreme pain. Treatment with laser therapy would only be an attempt to stop the leakage, and possibly prevent the increase in eye pressure that can lead to enucleation.

Stage 5: At this stage, total blindness is present and irreversible. If there is no pain, aggressive treatment is not required. You and your opthalmologist should discuss and agree on what treatment (if any) should be attempted.

Prognosis for visual recovery

As you will all soon find out, Drs. Carol and Jerry Shields are known around the world for their tireless work in the management and treatment of Coats' disease. A large percentage of the children diagnosed with Coats' disease are sent to the Wills Eye Hospital in Philadelphia, PA, to be seen by Drs. Shields. Much of the information on this page was taken from the 2000 Proctor Lecture on the Management and Classification of Coats' Disease. We thank Dr. Shields for allowing us to post some of their data here. We thank them as well, for the care they provided for our son Jacob.

Drs. Shields led a team that followed 117 patients (124 eyes) for a mean of 55 months. In this subset of Coats' patients, the following visual outcome was observed:

Poor visual outcome (20/200 or worse) was found in 0% of eyes with stage 1, 53% with stage 2, 74% with stage 3, and 100% of stages 4 and 5 Coats disease. Enucleation was ultimately necessary in 0% of stages 1 and 2, 7% of stage 3, 78% of stage 4, and 100% of stage 5 disease.

The 2000 Proctor Lecture can be found here:

http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&list_uids=11336931&cmd=Retrieve&indexed=google

What treatments are available?

The two most common treatments for Coats' Disease are Laser Photocoagulation and Cryotherapy. The treatment chosen depends on the stage at which the disease was diagnosed. There are a few new treatments in various stages of clinical trials, but are years away from becoming available. Some doctors are experimenting with a drug called Avastin, which is actually a drug used to treat cancer. Avastin is an FDA approved therapy designed to inhibit angiogenesis, the process by which new blood vessels develop. In cancer patients, this anti-angiogenic process starves the tumor of new blood cells. In Coats' disease, it is believed that Avastin would greatly inhibit the development of new blood vessels. This could potentially eliminate the need for repeated sessions of laser therapy and the scar tissue it causes.