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Clinicopathologic Reports, Case Reports and Small Case Series
October 2001

Japanese X-linked Juvenile Retinoschisis: Conflict of Phenotype and Genotype With Novel Mutations in the XLRS1 Gene

Arch Ophthalmol. 2001;119(10):1553-1554. doi:

X-linked juvenile retinoschisis (XRS) is a relatively rare X-linked recessive vitreoretinal dystrophy that is characterized by a tangential splitting of the superficial layers of the sensory retina. Most cases demonstrate a foveal schisis or cystlike stellate maculopathy, and approximately half of the cases have peripheral retinoschisis. The clinical features of this disorder are variable, resulting in occasional difficulties in diagnosis. Since 1997, when XLRS1, the gene responsible for XRS was identified,1 more than 100 mutations in XLRS1 have been reported.2

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