REVIEW

X-linked retinoschisis: an update

Stephen K Sikkink¹, Susmito Biswas³, Neil R A Parry³, Paulo E Stanga³, Dorothy Trump^1,2

¹ Academic Unit of Medical Genetics, St Mary’s Hospital, University of Manchester, Manchester, UK
² Centre for Molecular Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
³ Manchester Royal Eye Hospital, Oxford Road, Manchester, UK

Correspondence to:
Professor D Trump
Academic Unit of Medical Genetics, University of Manchester, St Mary’s Hospital, Manchester M13 0JH, UK; dorothy.trump{at}manchester.ac.uk

X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin. Retinoschisin octamerises is implicated in cell–cell interactions and cell adhesion perhaps by interacting with ß2 laminin. Mutations cause loss of retinoschisin function by one of the three mechanisms: by interfering with protein secretion, by preventing its octamerisation or by reducing function in the secreted octamerised protein. The development of retinoschisis mouse models have provided a model system that closely resembles the human disease. Recent reports of RS1 gene transfer to these models and the sustained restoration of some retinal function and morphology suggest gene replacement may be a possible future therapy for patients.

Abbreviations: CSNB, congenital stationary night blindness; ERG, electroretinogram; OCT, optical coherence tomography; RS1, retinoschisis gene; XLRS, X-linked retinoschisis

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Luna, G., Kjellstrom, S., Verardo, M. R., Lewis, G. P., Byun, J., Sieving, P. A., Fisher, S. K. (2009). The Effects of Transient Retinal Detachment on Cavity Size and Glial and Neural Remodeling in a Mouse Model of X-Linked Retinoschisis. IOVS 50: 3977-3984 [Abstract] [Full Text]  
• Ko, M. L., Liu, Y., Shi, L., Trump, D., Ko, G. Y.-P. (2008). Circadian Regulation of Retinoschisin in the Chick Retina. IOVS 49: 1615-1621 [Abstract] [Full Text]  
• Molday, L. L., Wu, W. W. H., Molday, R. S. (2007). Retinoschisin (RS1), the Protein Encoded by the X-linked Retinoschisis Gene, Is Anchored to the Surface of Retinal Photoreceptor and Bipolar Cells through Its Interactions with a Na/K ATPase-SARM1 Complex. J. Biol. Chem. 282: 32792-32801 [Abstract] [Full Text]  
• Kjellstrom, S., Bush, R. A., Zeng, Y., Takada, Y., Sieving, P. A. (2007). Retinoschisin Gene Therapy and Natural History in the Rs1h-KO Mouse: Long-term Rescue from Retinal Degeneration. IOVS 48: 3837-3845 [Abstract] [Full Text]