X-Linked Juvenile Retinoschisis

PATHOLOGY

The X-linked retinoschisis or juvenile X-linked retinoschisis (congenital X-linked retinoschisis (CXLRS) is a retinal hereditary condition having an early onset characterized by the split (schisis) of the retinal layers in the foveal area or in the peripheral retina. It is characterized by these cystic spaces arranged according to a radial stripes pattern like a “bicycle wheel”, better evident if examined with red light  [NdT: non ho trovato alcuna spiegazione per “luce rosso-priva“]. Over time the radial folds become less evident and only a mitigation of the foveal reflex is appreciated. Usually this pathology occurs binocularly, even though with a different degree of seriousness and is caused by mutations of the RS1 gene, which encodes for the retinoschisin, a protein involved in the intercellular adhesion.

TREATMENT

The inhibitors of carbonic anhydrase can lead to a light improvement of the retinal anatomy, both topical dorzolamide or systemic acetazolamide have been designated as drugs useful in improving intraretinal cystic spaces. Complications such as a retinal detachment and vitreal hemorrhages may require surgery. A photocoagulation laser treatment can prevent a complete retinal detachment.  Visual acuity decreases during the first two decades of life and remains stable up to the fifth or sixth decade of life, when a further worsening occurs. Currently several controlled clinical studies under way exist which through the gene therapy try to restore the normal retinal anatomy and, therefore, to stabilize or improve the visual quality of the patient and it is likely and highly desirable that the juvenile x-linked retinoschinosis may represent the second hereditary retinal disease, after Leber congenital amaurosis, for which a specific gene therapy will soon be marketed.

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