Coats' disease

Last updated
Coats' disease
Other namesExudative retinitis , Retinal telangiectasis, Coates' disease
Eye of patient with Coats' disease.jpg
Clinical photography of patient with Coats' disease, showing conjunctival hyperemia, mild corneal edema, posterior synechiae and cataract
Specialty Ophthalmology   OOjs UI icon edit-ltr-progressive.svg

Coats' disease is a rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina. Coats' disease can also fall under glaucoma.

Contents

It can have a similar presentation to that of retinoblastoma. [1]

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, who will assess and diagnose the condition and refer to a vitreo-retinal specialist.

A young child with the yellow eye of Coats' disease - still in an early stage. Only visible with a flash camera. Coats disease - camera with flash.jpg
A young child with the yellow eye of Coats' disease - still in an early stage. Only visible with a flash camera.

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.

Presentation

Coats' usually affects only one eye (unilateral) and occurs predominantly in young males 1/100,000, 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' disease 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).

Coats' disease is a rare extramuscular manifestation of facioscapulohumeral muscular dystrophy (FSHD). A single study reported it in 1 percent of FSHD patients, most often those with FSHD type 1 (FSHD1) with large D4Z4 deletions. [4]

Pathogenesis

Coats' disease is thought to result from breakdown of the blood-retinal barrier in the endothelial cells, 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] [5]

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] [6]

Imaging findings

Computed Tomography image of a patient with Coats' disease, showing total exudative retinal detachment in the right eye Coats2.jpg
Computed Tomography image of a patient with Coats' disease, showing total exudative 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. [7] [8]

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. [9]

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 Coats disease.jpg
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 exudative retinal detachment, and subretinal exudate containing cholesterol crystals (H&E) Coats3.jpg
A case of Coats' disease, showing total exudative 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. [10] The subretinal exudate consists of cholesterol crystals, macrophages laden with cholesterol and pigment, erythrocytes, and hemosiderin. [11] A granulomatous reaction, induced by the exudate, may be seen with the retina. [12] Portions of the retina may develop gliosis as a response to injury.

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.

History

Coats' disease is named after George Coats. [13] [14]

Related Research Articles

<span class="mw-page-title-main">Diabetic retinopathy</span> Diabetes-induced damage to the retina of the eye

Diabetic retinopathy, is a medical condition in which damage occurs to the retina due to diabetes. It is a leading cause of blindness in developed countries.

<span class="mw-page-title-main">Vitreous body</span> Gel in eyeballs

The vitreous body is the clear gel that fills the space between the lens and the retina of the eyeball in humans and other vertebrates. It is often referred to as the vitreous humor, from Latin meaning liquid, or simply "the vitreous". Vitreous fluid or "liquid vitreous" is the liquid component of the vitreous gel, found after a vitreous detachment. It is not to be confused with the aqueous humor, the other fluid in the eye that is found between the cornea and lens.

<span class="mw-page-title-main">Vitrectomy</span> Surgery to remove vitreous humor from the eye

Vitrectomy is a surgery to remove some or all of the vitreous humor from the eye.

Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used because of the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels and may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birth-weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.

<span class="mw-page-title-main">Amaurosis fugax</span> Medical condition

Amaurosis fugax is a painless temporary loss of vision in one or both eyes.

This is a partial list of human eye diseases and disorders.

<span class="mw-page-title-main">Retinal detachment</span> Medical condition of the eye

Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blindness. It is a surgical emergency.

<span class="mw-page-title-main">Coloboma</span> Hole in one of the structures of the eye

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.

<span class="mw-page-title-main">Posterior vitreous detachment</span> Eye condition where vitreous membrane detaches from the retina

A posterior vitreous detachment (PVD) is a condition of the eye in which the vitreous membrane separates from the retina. It refers to the separation of the posterior hyaloid membrane from the retina anywhere posterior to the vitreous base.

Neovascularization is the natural formation of new blood vessels, usually in the form of functional microvascular networks, capable of perfusion by red blood cells, that form to serve as collateral circulation in response to local poor perfusion or ischemia.

Eales disease is a type of obliterative vasculopathy, also known as angiopathia retinae juvenilis, periphlebitis retinae or primary perivasculitis of the retina. It was first described by the British ophthalmologist Henry Eales (1852–1913) in 1880 and is a rare ocular disease characterized by inflammation and possible blockage of retinal blood vessels, abnormal growth of new blood vessels (neovascularization), and recurrent retinal and vitreal hemorrhages.

Rubeosis iridis is a medical condition of the iris of the eye in which new abnormal blood vessels are found on the surface of the iris.

<span class="mw-page-title-main">Optic disc drusen</span> Medical condition

Optic disc drusen (ODD) are globules of mucoproteins and mucopolysaccharides that progressively calcify in the optic disc. They are thought to be the remnants of the axonal transport system of degenerated retinal ganglion cells. ODD have also been referred to as congenitally elevated or anomalous discs, pseudopapilledema, pseudoneuritis, buried disc drusen, and disc hyaline bodies.

<span class="mw-page-title-main">Intermediate uveitis</span> Medical condition

Intermediate uveitis is a form of uveitis localized to the vitreous and peripheral retina. Primary sites of inflammation include the vitreous of which other such entities as pars planitis, posterior cyclitis, and hyalitis are encompassed. Intermediate uveitis may either be an isolated eye disease or associated with the development of a systemic disease such as multiple sclerosis or sarcoidosis. As such, intermediate uveitis may be the first expression of a systemic condition. Infectious causes of intermediate uveitis include Epstein–Barr virus infection, Lyme disease, HTLV-1 virus infection, cat scratch disease, and hepatitis C.

<span class="mw-page-title-main">Epiretinal membrane</span> Eye disease

Epiretinal membrane or macular pucker is a disease of the eye in response to changes in the vitreous humor or more rarely, diabetes. Sometimes, as a result of immune system response to protect the retina, cells converge in the macular area as the vitreous ages and pulls away in posterior vitreous detachment (PVD).

<span class="mw-page-title-main">Intraocular hemorrhage</span> Medical condition

Intraocular hemorrhage is bleeding inside the eye. Bleeding can occur from any structure of the eye where there is vasculature or blood flow, including the anterior chamber, vitreous cavity, retina, choroid, suprachoroidal space, or optic disc.

<span class="mw-page-title-main">Vitreous hemorrhage</span> Leakage of blood into the internal fluid of the eye

Vitreous hemorrhage is the extravasation, or leakage, of blood into the areas in and around the vitreous humor of the eye. The vitreous humor is the clear gel that fills the space between the lens and the retina of the eye. A variety of conditions can result in blood leaking into the vitreous humor, which can cause impaired vision, floaters, and photopsia.

<span class="mw-page-title-main">Cerebroretinal microangiopathy with calcifications and cysts</span> Medical condition

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progressive calcifications, cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina. Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures, and gastrointestinal bleeding. It is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene, but its exact pathophysiology is still not well understood.

Sickle cell retinopathy can be defined as retinal changes due to blood vessel damage in the eye of a person with a background of sickle cell disease. It can likely progress to loss of vision in late stages due to vitreous hemorrhage or retinal detachment. Sickle cell disease is a structural red blood cell disorder leading to consequences in multiple systems. It is characterized by chronic red blood cell destruction, vascular injury, and tissue ischemia causing damage to the brain, eyes, heart, lungs, kidneys, spleen, and musculoskeletal system.

Polypoidal choroidal vasculopathy (PCV) is an eye disease primarily affecting the choroid. It may cause sudden blurring of vision or a scotoma in the central field of vision. Since Indocyanine green angiography gives better imaging of choroidal structures, it is more preferred in diagnosing PCV. Treatment options of PCV include careful observation, photodynamic therapy, thermal laser, intravitreal injection of anti-VEGF therapy, or combination therapy.

References

  1. ↑ Shields CL, Uysal Y, Benevides R, Eagle RC, Malloy B, Shields JA (2006). "Retinoblastoma in an eye with features of Coats' disease". J Pediatr Ophthalmol Strabismus . 43 (5): 313–5. doi:10.3928/01913913-20060901-08. PMID   17022167.
  2. 1 2 3 4 5 6 EdwardDP, Mafee MF, Garcia-Valenzuela E, Weiss RA. Coats' disease and persistent hyperplastic primary vitreous: role of MR imaging and CT. Radiol Clin North Am 1998; 36(6): 1119–1131.
  3. ↑ WoodsAC, Duke JR. Coats's disease. I. Review of the literature, diagnostic criteria, clinical findings, and plasma lipid studies. Br J Ophthalmol 1963; 47: 385–412.
  4. ↑ Statland JM1, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R. Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size. Neurology. 2013 Mar 26;80(13):1247-50. doi: 10.1212/WNL.0b013e3182897116. Epub 2013 Feb 27.
  5. ↑ ChangMM, McLean IW, Merritt JC. Coats' disease: a study of 62 histologically confirmed cases. J Pediatr Ophthalmol Strabismus 1984; 21(5): 163–168.
  6. ↑ ShieldsJA, Shields CL. Review: Coats disease—the 2001 LuEsther T. Mertz lecture. Retina 2002; 22(1): 80–91.
  7. ↑ BerrocalT, de Orbe A, Prieto C, et al. US and color Doppler imaging of ocular and orbital disease in the pediatric age group. RadioGraphics 1996; 16(2): 251–272.
  8. ↑ GlasierCM, Brodsky MC, Leithiser RE Jr, Williamson SL, Seibert JJ. High resolution ultrasound with Doppler: a diagnostic adjunct in orbital and ocular lesions in children. Pediatr Radiol 1992; 22(3): 174–178.
  9. ↑ EisenbergL, Castillo M, Kwock L, Mukherji SK, Wallace DK. Proton MR spectroscopy in Coats disease. AJNR Am J Neuroradiol 1997; 18(4): 727–729.
  10. ↑ Chung EM, Specht CS, Schroeder JW. Pediatric Orbit Tumors and Turmorlike Lesions: Neuroepthelial Lesions of the Ocular Globe and Optic Nerve. Radiographics. 2007 Jul-Aug;27(4):1159-86.
  11. ↑ KremerI, Nissenkorn I, Ben-Sira I. Cytologic and biochemical examination of the subretinal fluid in diagnosis of Coats' disease. Acta Ophthalmol (Copenh) 1989; 67(3): 342–346.
  12. ↑ FernandesBF, Odashiro AN, Maloney S, Zajdenweber ME, Lopes AG, Burnier MN Jr. Clinical-histopathological correlation in a case of Coats' disease. Diagn Pathol 2006; 1: 24.
  13. ↑ synd/2146 at Who Named It?
  14. ↑ G. Coats. Forms of retinal disease with massive exudation. Royal London Ophthalmic Hospital Reports, 1908, 17, 3: 440-525.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.