Stargardt disease
Introduction
Introduction to Stargardt's disease Most of Stargardt's disease begins in the growth phase of permanent teeth. It is an autosomal recessive genetic disease that originates from the retinal pigment epithelial layer. The patients suffer from both eyes and develop synchronously. There is no significant difference in gender. basic knowledge The proportion of illness: 0.03% Susceptible people: no special people Mode of infection: non-infectious Complications: depression, neurasthenia, insomnia
Cause
The cause of Stargardt's disease
Causes:
The yellow spot on the fundus is mostly an autosomal recessive disease. It is common in the offspring of close relatives. Many of the siblings are ill, a few are dominantly inherited, and there are sporadic cases.
Pathogenesis:
The mechanism is unclear, but the yellow spots in the deep layer of the retina are found to be mucopolysaccharides in the pigment epithelium of the retina and deposits of a large amount of lipofuscin. In the angiography, choroidal drowning occurs due to excessive lipofuscin occlusion of choroidal fluorescence.
Prevention
Stargardt disease prevention
It is related to genetic factors, avoiding close relatives' marriage, and doing prenatal examination and prenatal diagnosis. The diet is light and nutritious, paying attention to the balance of the diet. Avoid spicy food. Eat more fresh vegetables and fruits. Fresh vegetables and fruits contain a lot of nutrients that the body needs. Eat more immune-enhancing foods to improve your body's ability to fight disease.
Complication
Stargardt disease complications Complications depression neurasthenia insomnia
Can be associated with depression, neurasthenia, insomnia, epilepsy and other symptoms.
Depression is a form of seizure of manic depression. Depression is low, thinking is slow, and speech movement is reduced or slow as a typical symptom. Depression seriously afflicts patients' lives and work, and places a heavy burden on families and society. About 15% of depressed patients die from suicide.
Neurasthenia is a neurosis characterized by brain and physical dysfunction. It is characterized by being easy to be excited and prone to fatigue. It is often accompanied by symptoms such as nervousness, trouble, irritability, and other physiological symptoms such as muscle tension pain and sleep disorders. These symptoms are not secondary to physical illnesses and brain organic lesions, nor are they part of any other mental disorder. However, patients may have persistent emotional stress and mental stress before their illness.
Symptom
Symptoms of Stargardt's disease Common symptoms Fundus changes, blind choroidal dysplasia, visual impairment
In the long process, it can be divided into the initial stage, the advanced stage and the late stage.
1. The initial fundus is completely normal, but the central visual acuity has been significantly reduced, so it is easy to be misdiagnosed as amblyopia or rickets. If you have FFA examination at this time, you can see a large number of weak yellow spots, so FFA is the disease. Early diagnosis is extremely important.
2. The earliest fundus change during the development period is that the central reflection disappears, and then gray-yellow spots are seen in the deep yellow spot, and a clear atrophy zone with a horizontal elliptical boundary is formed, with a transverse diameter of 1.5 to 2 PD and a diameter of 1.0 to 1.5 PD. It is like a beaten bronze atrophic area (Fig. 2). During the course of the disease, yellow spots appear around the atrophy area, and the atrophy area expands, so it develops very slowly and continuously. It can invade the entire posterior pole, but generally does not extend beyond the central and distal arteries of the upper and lower temporal retinas, and does not reach the equator. At this time, the FFA can see that the entire atrophy area is mottled and strong fluorescence, and its surroundings correspond to yellow spots. There are worm-like small fluorescent spots, which are a kind of fluorescing fluorescence displayed by pigment epithelial damage.
3. In the late stage of the disease, the choroidal blood vessels in the macula can be seen in the hardened, atrophic, and irregular pigmented spots, indicating that the choroidal capillaries have also been damaged. Irvine et al speculate that this damage is secondary to retinal nerves. A disuse atrophy of the epithelial outer layer and the pigment epithelial layer for long-term loss of function and metabolism.
In some cases of this disease, especially those with yellow saccular fundus, FFA can be seen as choroidal silence sign (or dark choroid, dark choroid; Newsome is recommended to be called choroidal background fluorescence loss, absent choroid), that is, fluorescein sodium When the choroidal circulation is weak, the background fluorescence is weak, and the cause of the formation is unclear. It is speculated that it may accumulate abnormal substances such as lipofuscin in the retinal pigment epithelial cells, and absorb the excitation light of the blue wavelength to prevent the fluorescence from being excited.
Examine
Stargardt disease check
Genetic examination.
1. Fundus fluorescein angiography Fluorescence angiography is helpful for the early diagnosis of the fundus without changes in the fundus. At this time, the spotted fluorescence of the early atrophy of the central pigment epithelium can often be seen. In addition, in the first stage of the disease progression It is likely that due to the diffuse deposition of abnormal substances in the pigment epithelial cells, the choroidal fluorescence is blocked, resulting in a general decrease in background fluorescence. In the dim background, the capillaries of the retina appear clearer than usual. "choroidal silence" (Fig. 6), but this phenomenon can only be seen at a certain stage of the disease, usually in the period when the pigment epithelium around the macula atrophy has not changed, to the surroundings When there is a lot of yellow spot spread and diffuse pigmentation in the area, the background fluorescence is generally enhanced rather than weakened.
When the yellow spots of the retina are thick, they appear to obscure the fluorescent dots. When the absorption is light, the fluorescence spots are visible. When the contrast is observed, the pigment epithelium between the yellow spots and the spots is visible, showing fluorescence. Diffuse atrophy occurred in the pigment epithelium.
In the advanced case, the "target" pigment epithelial atrophy of the macula may be associated with choroidal capillary atrophy, in which the choroidal large vessels are exposed.
2. Electrophysiological examination showed no obvious changes in early visual electrophysiological examination, but as the yellow spots gradually appeared during the development of the lesion, EOG began to appear abnormal, the light peak decreased, and the Aden ratio decreased. When the lesion was confined to the macula. ERG can be normal. When the lesion is diffused and the central and peripheral retinas are involved, the FERG is abnormal. The a-wave damage is significantly greater than the b-wave damage. The loss of central cone function is mainly caused by PERG abnormality, and PERG basically tends to extinguish. PVEP The change was highly positively correlated with visual acuity and degree of disease. In the early stage of the lesion, when the visual acuity was not seriously damaged, the abnormal rate of PVEP was about 50%. When the macular lesion was heavier, the abnormal rate of PVEP was 100%.
3. Dark adaptation check that some patients have decreased.
Diagnosis
Diagnosis of Stargardt disease
Diagnostic criteria
The visual function of this disease is that the central vision has a significant decline at the beginning, and the height is poor at the advanced stage and late stage. The patient has no blindness at night and has varying degrees of blindness. The visual field examination can find the dark spots at the beginning. After the implementation period, there is a darker point corresponding to the size of the atrophy area, and the peripheral visual field generally does not change. The color vision disorder can be detected at the initial stage, and then gradually intensifies. There is no obvious abnormality in the whole field ERG, and the multifocal electroretinogram (mERG) There was a significant change, suggesting that the foveal damage was severe and the EOG peak-to-dark ratio (LP/DT) was normal or decreased.
According to the medical history, visual function test, fundus manifestation and characteristics of fluorescein angiography, it is not difficult to make a diagnosis of this disease. It is related to genetic factors and can be used for family survey.
Differential diagnosis
1. Central areolar retinochoroidal atrophy (central areolar retinochoroidal atrophy) The disease is an autosomal dominant genetic disease, the erythema of the two eyes has a symmetrical boundary of the retinal choroidal atrophy, the surrounding fundus normal fluorescent angiography macular There is a large choroidal vascular permeability, and the sclera is stained in the late stage. The dark part of the cone is abnormally examined, but the part of the rod is normal, and the color vision is red-green blind.
2. Cone dystrophy or cone degeneration This disease is also an autosomal dominant genetic disease, a rare congenital macular degeneration disease, early central vision loss, photophobia, eyeball Tremor, fundus examination of the cornea or bullylation of pigmented epithelial cells in the macular area, fluorescence angiography in the depigmentation area has strong fluorescence such as target heart, electrophysiology shows abnormal ERG, esoteric ERG is normal, EOG is normal, color vision Check for red or blue or full color blindness,
