Abstract
Congenital X-linked Retinoschisis (CXRS) is a vitreoretinopathy that is primarily inherited in an X-linked recessive pattern. It is typically bilateral and is the most common cause of juvenile macular degeneration in males. The primary defect is in the RS1 gene, with a high correlation between clinical diagnosis and alterations within the gene. While this makes CXRS an excellent target for gene therapy, the current management remains predominantly surgical.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Tanatri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH, Donoso LA. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol. 2004;49:214–30.
Sieving PA, MacDonald IM, Trese MT. Congenital X-linked retinoschisis. In: Hartnett ME, Trese MT, Capone A, et al., editors. Pediatric retinal diseases: medical and surgical approaches. Philadelphia: Lippincott, Williams & Wilkins; In Press.
Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Novel mutations in XLRS1 causing retinoschisis, including first evidence of a putative leader sequence change. Hum Mutat. 1999;14:423–7.
Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2004;45:3279–85.
The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet. 1998;7:1185–92.
Chan WM, Choy KW, Wang J, Lam DS, Yip WW, Fu W, Pang CP. Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clin Exp Ophthalmol. 2004;32:429–32.
Prenner JL, Capone A, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Arch Ophthalmol. 2004; accepted.
Azzolini C, Pierro L, Codenotti M, Brancato R. OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol. 1997;7:196–200.
Eriksson U, Larsson E, Holmstrom G. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand. 2004;82:218–23.
Kahn NW, Jamison JA, Kemp JA, Sieving PA. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vis Res. 2001;41:3931–42.
Huang S, Wu D, Jiang F, Luo G, Liang J, Wen F, Yu M, Long S, Wu L. The multifocal electroretinogram in X-linked juvenile retinoschisis. Doc Ophthalmol. 2003;106:251–5.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2021 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Drenser, K. (2021). Congenital X-Linked Retinoschisis. In: Wu, WC., Lam, WC. (eds) A Quick Guide to Pediatric Retina. Springer, Singapore. https://doi.org/10.1007/978-981-15-6552-6_23
Download citation
DOI: https://doi.org/10.1007/978-981-15-6552-6_23
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-15-6551-9
Online ISBN: 978-981-15-6552-6
eBook Packages: MedicineMedicine (R0)