Juvenile retinoschisis: causes, symptoms, diagnosis, treatment

X-chromosome juvenile retinoschisis refers to hereditary vitreoretinal degenerations linked to the sex. Vision is reduced in the first decade of life. The disease is characterized by bilateral maculopathy in combination with peripheral retinosis in 50% of patients. The defect of Muller cells causes splitting of the layer of nerve fibers and the rest of the sensory retina. Unlike the congenital with the acquired retinoschisis splitting occurs in the outer reticular layer. The men are ill. Type of inheritance linked to the X chromosome, gene RS1. It appears at the age of 5-10 years with complaints about difficulties of reading due to maculopathy. Less often the disease is manifested in childhood by strabismus and nystagmus, accompanied by pronounced peripheral retinosis, often with hemophthalmia. The RS1 gene, responsible for the development of X-chromosomal retinoschisis, is localized on the short arm of the 22nd chromosome.

[1], [2], [3]

Symptoms of juvenile retinoschisis

Stratification of the retina is the main clinical sign of juvenile retinosis. It occurs in the layer of nerve fibers of the retina. It is suggested that retinosis is the result of a disruption in the function of the supporting Müller cells. Retinoschisis is accompanied by dystrophic changes in the retina, represented by sections of golden-silver color; white tree structures are formed by abnormal vessels, the permeability of the walls of which is increased. On the periphery, giant cysts of the retina are often formed, surrounded by a pigment. This form of the disease, called bullosa, is usually observed in young children and is combined with strabismus and nystagmus. Retina cysts can spontaneously decay. With the progression of retinosis, glial proliferation develops, neovascularization of the retina, multiple arco-like ruptures, hemophthalmia, or hemorrhages in the cyst cavity. In the vitreous body, fibrous cords, avascular or vascular membranes and vacuoles are determined. Due to the fusion of strands with the retina, tension (traction) occurs, which leads to the formation of traction ruptures of the retina and its detachment. Star-like folds or radial lines in the form of a star ("spokes in the wheel") are observed in the macular region. Visual acuity is significantly reduced.

• in foveal schizis, the smallest cystlike spaces are arranged in the "spokes-to-wheel" type. A clearer picture appears in a red light. Over time, the radial folds become less noticeable, leaving a lubricated foveolaric reflex;
• peripheral schizosis is most often localized in the lower quadrant, does not spread, but can pass through a series of secondary changes.
  • In the inner layer, consisting only of the inner boundary membrane and the layer of nerve fibers, oval holes may arise.
  • In rare severe cases, the defects merge, the floating retinal vessels look like a "vitreous veil".
• other symptoms: perivasal clutches, golden shine of the peripheral retina, pulling of the retinal vessels of the nasal side, retinal spots, subretinal exudate and neovascularization.

"Spokes in the wheel" - maculopathy with congenital retinosis (provided by P. Morse)

Complications: vitreous hemorrhage, lamellar retina cavity and retinal detachment.

Diagnosis of juvenile retinoschisis

The leading role in diagnosis is played by the ophthalmoscopic picture of the disease and ERG, which is sharply subnormal.

• Electroretinogram with isolated makulopathy is not changed. With peripheral retinosis, a selective decrease in the amplitude of the b-wave is observed in the electroretinogram in comparison with the a-wave amplitude in scotopic and photopic conditions.
• The electrooculogram is preserved normal with isolated makulopathy and subnormal - with pronounced peripheral changes.
• Color vision: violation of color perception in the blue part of the spectrum.
• The PHAG reveals maculopathy with small "final" defects without seepage.
• Fields of vision in peripheral retinoschisis with absolute livestock zones corresponding to the localization of schizos.

[4], [5]

Treatment of juvenile retinoschisis

Laser coagulation of the retina and surgical treatment. With detachment of the retina, vitrectomy, intravitreal tamponade with perfluorocarbons or silicone oil, extrascleral filling is performed.

Forecast

Prognosis unfavorable due to progressive maculopathy. Visual acuity decreases in 1-2 decades of life and can be stabilized up to 5-6 decades with subsequent decrease. Patients with peripheral jaws may have a sharp decrease in vision due to hemorrhage or retinal detachment.

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