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James A. Eadie, Casear Luo, Michael T. Trese; A Novel Clinical Presentation Of Congenital X-linked Retinoschisis. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3614.
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To report a case of a novel phenotype for congenital x-linked retinoschisis (CXLRS).
A patient with CXLRS was identified in clinic at the Associated Retinal Consultants in Royal Oak, MI and followed for seven years. The chart was retrospectively reviewed. Studies reviewed include genotyping, serial optical coherence tomography (OCT), fundus photography and electroretinography (ERG).
Analysis of clinical exams and testing was consistent with a diagnosis of CXLRS. The patient has a confirmed missense mutation to RS1 (R102Q). The fundoscopic view demonstrated bilateral peripheral schisis cavities and vitreous veils. OCT did not, however, show any evidence of foveal cysts. Visual acuity was preserved to 20/25 OD and 20/20 OS. The patient has been followed since 2004, and is now fifteen years old.
This is a reported case of CXLRS with no foveal involvement. It is the only reported case in the literature with this particular combination of clinical findings. In all previously reported cases the cystic changes to the fovea have largely defined the disease. All other features of the disease are present including genotyping, ERG, OCT, clinical exam and family history. The presence of this novel phenotype of CXLRS forces us to rethink our understanding of this disease as primarily a macular dystrophy.
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