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X-Linked Retinoschisis

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Hereditary Chorioretinal Disorders

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Abstract

X-linked retinoschisis (XLRS) is an inherited retinal degeneration which was first described in 1898. The disease is associated with the mutation of RS-1 gene. XLRS can lead to foveal and peripheral retinal schisis, retinal detachment, or macula atrophy, and further casue visual impairment since childhood. Typical features include cartwheel-like fovea in fundus images, cystoid macular lesion in optical coherence tomography, spoke-like pattern in fundus autofluorescence, and electronegative electroretinography. Evaluation and interventions for associated complications such as vitreous hemorrhage or retinal detachment are important.  

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Acknowledgments

N. K. Wang is supported by the Taiwan Ministry of Science and Technology MOST 106-2314-B-182A-041 and the Chang Gung Memorial Hospital CMRPG3F1241-3F1242.

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Kang, E.YC., Wang, NK. (2020). X-Linked Retinoschisis. In: Cheung, G. (eds) Hereditary Chorioretinal Disorders. Retina Atlas. Springer, Singapore. https://doi.org/10.1007/978-981-15-0414-3_3

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  • DOI: https://doi.org/10.1007/978-981-15-0414-3_3

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