Coats disease

from Wikipedia, the free encyclopedia
Classification according to ICD-10
H35.0 Retinopathies of the fundus and changes in the retinal vessels
ICD-10 online (WHO version 2019)
Normal fundus of a right eye
Fundus findings in Coats disease of the right eye

At Coats' disease ( syn. Retinitis exudative retinal telangiectasia and ) is a rare congenital eye disease of the retinal vessels , which usually occurs only on one side and to the deterioration of vision, often until blindness results. The blood vessels are dilated and leaky, so that blood and lipid-containing liquid secretions ( exudates ) can penetrate into and under the retina and its deeper layers. This creates retinal edema , which when viewed from the outside becomes noticeable as a whitish-gray pupil color ( leukocoria ). If left untreated, the exudate leads to progressive inflammatory retinal detachment and irreversible damage.

So far, the reason for the causal vascular changes is not known . Coats disease occurs predominantly in boys and young men. The treatment consists in the obliteration of the vessels by cold treatment ( cryotherapy ) or in a closure of the retinal detachment boundaries by means of laser therapy , which in many cases can prevent complete blindness or at least significantly delay it. In exceptional cases, it may also be necessary to remove the affected eye .

distribution

The Crohn's Coats is a rare congenital eye disease with visible enhancements and changes ( telangiectasia ) of the retinal vessels. There are around 1–9 cases of illness for every 100,000 people. They occur unilaterally in 90% of cases and mostly in boys and young men in the first or second decade of life. The peak of the disease is between six and eight years of age, but the disease can in principle affect anyone between the ages of one month and 79 years. The frequency is about 69% male and 31% female.

Cause and origin

The cause is an endothelial defect in the retinal blood vessels, which results in bulges and aneurysms in these vessels. As a result, both capillary collapse and a disruption of the blood-retinal barrier occur, whereby large amounts of fluid ( exudate ) can escape into the retina. This is where lipid-laden macrophages and cholesterol crystals in the blood are deposited . Over time, these substances accumulate and lead only for thickening of the retina and then ultimately to the - by the exudate-related - detachment with which an increasing loss of vision associated.

The reason for the causal defect in the retinal vessels is still unknown. In some of those affected, increased concentrations of a special signaling molecule , the vascular endothelial growth factor (VEGF) were found. Descriptions of individual cases ( case reports) on the occurrence of the disease together with various other genetic defects are, however, regarded as an indication of genetic involvement. In one case, the X chromosome locus p11.4 was affected. This is also known as the NDP gene (see also Norrie syndrome ) because it is responsible for the formation of Norrin . The latter is a protein that, as a growth factor, is believed to have an impact on the development of retinal vessels. An association with facioscapulohumeral muscular dystrophy has also been described. This change affects chromosome 4 , locus q35.

Clinical manifestations

Typical leukocoria in a child.

Typical initial symptoms are secondary squint (strabismus) and the whitish pupil ( leukocoria ). In the case of the latter, the reflex of the fundus of the eye is not red as usual , but whitish-gray in photographs taken with flash light . Patients often see blurred in the affected eye, which also affects their spatial vision . Especially in small children, the loss of vision in one eye can go completely unnoticed. Coats disease is usually painless. However, if the exudate to an increase in intraocular pressure results, it can be a "Green Star" ( glaucoma ) result. Different eye color is also typical. Coats' disease is initially completely asymptomatic in almost ten percent of cases.

Although Coats' disease generally leads to long-term blindness of the affected eye, its course is not the same in all cases. Its progress can spontaneously come to a temporary or permanent standstill. A few cases have been described in which the disease even regressed. However, if a complete retinal detachment occurs, then permanent vision loss can be assumed. In children under five years of age, the clinical picture is generally much more intense than in people over ten years of age.

The vast majority of cases develop profuse subretinal exudate and detachment of the retina . Characteristic consequences are the formation of new vessels on the iris ( rubeosis iridis ), glaucoma and cataracts , as well as inflammation of the middle skin of the eye ( uveitis ) and shrinkage of the eyeball ( phthisis bulbi ). Statistically, the lower outer area of ​​the retina is particularly often affected, which can lead to a medial upper quadrant loss of the visual field. The rate of blindness is particularly high in those patients in whom the subretinal fluid accumulation does not regress after treatment or in whom the retina has large cysts or telangiectasias. The removal of the eye ( enucleation ) is particularly often necessary in patients with glaucoma or rubeosis iridis. Clinically, the clinical picture can look like a retinoblastoma .

Staging

So far, two somewhat different staging have been published. The first comes from Gomez Morales (1964) and divides the course into five stages. Only narrowly limited exudates (stage I) are followed by massive intraretinal exudates (II), then the first small-area exudates (III) and then the complete detachment of the retina (IV). Stage V stands for complications like glaucoma.

A second classification according to Shields et al. a. also describes five stages, however, some of which are underdifferentiated, beginning with stage I, the mere occurrence of retinal telangiectasias, without any evidence of leakage. Stage II describes its exit outside (II A) and inside the fovea centralis (II B). Stage III describes the detachment of the retina, beginning with a partial detachment outside (III A 1) or within the fovea centralis (III A 2) and the entire retina (III B). Stage IV describes the complete detachment with complicating glaucoma and stage V an advanced end stage of the disease.

Clinical examination

The classic leading symptom is leukocoria. Secondary strabismus can develop as a result of the one-sided loss of vision and the resulting disruption of binocular vision ( binocular vision ) . When examining the fundus by means of ophthalmoscopy , the capillary pattern is coarsened and the vessels of the retina are enlarged (dilated) and tortuous. This finding is mostly clearly visible in the temples and peripheral areas. If the disease has broken out, retinal detachments, large-scale, lipid-containing exudates and bleeding from the changed vessels can be found. These vascular changes can be shown particularly clearly by means of fluorescence angiography - if necessary to establish a diagnosis .

Technical examination results

Computed tomographic representation of Coats disease. This shows a complete exudative detachment of the retina of the right eye.

Imaging procedures such as sonography , computed tomography (CT) and magnetic resonance imaging (MRI) can help to establish a diagnosis. Sonographically, Coats' disease appears as an echogenicity in the posterior region of the vitreous without acoustic shadow; Bleeding into the vitreous humor and retina is typical.

Due to the protein-containing exudate , the eyeball appears denser (hyperdense) in the CT compared to healthy subjects. In the advanced stage, the exudate can affect the entire vitreous humor. The anterior border of the subretinal exudate is represented by an increase in contrast. Since the retina is fixed around the optic nerve papilla , advanced detachments are V-shaped.

In the MRI, the exudate detaching the retina shows a high signal intensity in both the T1- and T2-weighted images. In the presence of hemorrhagic fibrosis , it can appear irregular (heterogeneous). The space behind the retina does not expand when using contrast media containing gadolinium . However, there may be a slight expansion between the exudate and the remaining vitreous humor. The exudate shows an extended peak at 1–1.6 ppm on nuclear magnetic resonance spectroscopy .

Differential diagnosis

Differential diagnoses include in particular the retinoblastoma , but also the retinopathy of prematurity , a Persistent hyperplastic primary vitreous and toxocariasis Conditional Marketing Chorioretinitis that idiopathic juxtafoveolare telangiectasia and the damage to the retina ( retinopathy ) due to Leber's Miliaraneurysmen (irregular ectasia to consider retinal vessels). It should also be noted that Leber's miliar aneurysms and Coats’s disease are very similar clinical pictures and are therefore equated by some authors.

pathology

A marked detachment of the retina and a yellowish exudate under the retina, which contains cholesterol crystals , are characteristic of the pathological finding.

Under the microscope, the wall of the retinal vessels may appear thickened in some cases and thinned in others. In addition, there is an irregular expansion of the affected vessels. Characteristic is an exudate that consists of cholesterol crystals, macrophages loaded with cholesterol and pigments , as well as red blood cells and hemosiderin . The retina may have a granulomatous reaction caused by the exudate, and in some cases gliosis caused by the injury .

Prevention, Treatment and Prospect for Cure

No preventive measures are known. Especially in the early stages of the disease, cold treatments ( cryotherapy ) and focal laser coagulation can be used to destroy (obliterate) the altered vessels and thus prevent the foreseeable leakage of blood or fluid there. If the disease is more advanced and retinal detachment has occurred, attempts at therapy can be undertaken in the form of partial removal of the vitreous body ( vitrectomy ) or retinal coagulation (connection with the choroid by means of laser coagulation). If blindness has already occurred, removal ( enucleation ) of the affected eye may also be necessary - especially if pain and other complications arise or a retinoblastoma cannot be ruled out with absolute certainty. In the early stages in particular, at least part of the vision can often be preserved through the prompt use of suitable therapeutic measures. A curative treatment is not possible in individual cases, however, a spontaneous regression of the disease is described. Under the assumption that the vascular endothelial growth factor is of considerable importance for the course of the disease, an experimental treatment using bevacizumab or pegaptanib has recently been described in individual cases . However, this approach must be viewed critically.

history

The disease was named after its discoverer, the Scottish ophthalmologist George Coats . He described her on six children in 1908. In 1912, the German ophthalmologist Theodor Carl Gustav von Leber described a disease that was characterized by retinal degeneration due to multiple retinal aneurysms and that occurred primarily in young men. In 1955, Reese showed similarities between the two diseases (Coats' disease and Leber's miliary aneurysms) and assumed that both were merely different manifestations of the same underlying disorder. He used the term Coats' disease for the combination of telangiectasia and retinitis exudativa .

Web links

Individual evidence

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