A genetic disease of the eye characterized by retinoschisis (splitting of the retina) symmetrically involving the macula, the area of the retina responsible for central vision, with onset in the first decade of life, in some cases as early as three months of age. Eye examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina occurs in half of patients. Visual deterioration often progresses during the first decade or two of life, but visual acuity remains relatively stable after puberty.
R
S1 is the only gene known to be associated with X-linked juvenile retinoschisis. RS1 is on the X chromosome in band Xp22.2-p22.1. Approximately 95% of patients of Finnish heritage have one of three founder mutations in RS1.
The disease is inherited in an X-linked recessive manner. If the mother is a carrier, the chance of her transmitting the disease-causing mutation in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers who nearly always have normal visual function and normal electrophysiology. Affected males will pass the disease-causing mutation to all of their daughters and none of their sons.
Also called X-linked juvenile retinoschisis and X-linked retinoschisis.
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