X-linked Juvenile Retinoschisis

Keywords Diagnostic criteria/definition Synonyms Historical overview Excluded diseases Differential diagnosis Prevalence Clinical description Evolution Treatment Etiology Diagnostic methods Genetics Genetic counseling Prenatal diagnosis References Abstract X-linked retinoschisis is a congenital ocular disease secondary to an abnormal cleavage of the innermost layer of the retina. The frequency has been estimated at 1/28 000 in the North of France and 1/17 000 in Finland. This ocular disorder is characterized by a bilateral cystic macular lesion at the level of the posterior pole of the retina and, in more than one third of the cases, by a bullous elevation of the peripheral retina. This peripheral elevation or schisis can be associated with veils and preretinal vitreous condensations. The lesions are present at birth or appear during the first years of life. They have little tendency to progress. Whereas the peripheral lesions will eventually flatten and even disappear with time, the central lesion progresses towards atrophy. Vision slowly decreases with age, resulting in poor central vision after the fifth decade. No treatment is needed in the simple form. However, surgery should be considered in the presence of major complications, such as severe vitreoretinal traction resulting in haemorrhages, retinal tears or rhegmatogenous retinal detachment. This condition is inherited as a recessive X-linked trait. The gene has been localized (Xp22.2-p22.1) and numerous mutations have been identified. The physiopathology remains to be elucidated.