Uneingeschränkter Zugang

A Rare Case of Juvenile X-Linked Retinoschisis


Zitieren

1. Henderson RH. Inherited retinal dystrophies. Paediatrics and child health, 2020, 30(1), 19-27. Search in Google Scholar

2. Sanges D, Simonte G, Di Vicino U et al. Reprogramming Müller glia via in vivo cell fusion regenerates murine photoreceptors. J Clin Invest. 2016, 126, 3104–3116. Search in Google Scholar

3. Molday LL, Hicks D, Sauer CG et al. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci, 2001,42(3), 816-825. Search in Google Scholar

4. Takada Y, Fariss RN, Tanikawa A et al. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci, 2004, 45(9), 3302-3312. Search in Google Scholar

5. Pimenides D, George ND, Yates JR et al. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet, 2005, 42(6), e35. Search in Google Scholar

6. Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet, 2000, 25(4), 462-466. Search in Google Scholar

7. Hiroyuki K, Kazuma O, Satoshi K et al. Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis, 2019, 6:3, Published online 2019 Jan 8. doi: 10.1038/s41439-018-0034-6. Search in Google Scholar

8. Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina, 2005, 25(5), 612-618. Search in Google Scholar

9. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res, 2012, 31(3), 195-212. Search in Google Scholar

10. Yu J, Ni Y, Keane PA et al. Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study. Am J Ophthalmol, 2010, 149(6), 973-978, e972. Search in Google Scholar

11. Wang NK, Liu L, Chen HM et al. Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing. Mol Vis, 2015, 21, 487-501. Search in Google Scholar

12. Fishman GA, Birch DG, Holder GE et al. Electrophysiologic testing in disorders of the retina, optic nerve and visual pathway. 2nd ed., The Foundation of The American Academy of Ophthalmoilogy, Ophthalmology monographs, 2001, 170-198. Search in Google Scholar

13. Creel DJ. The Electroretinogram and Electro-oculogram: Clinical Applications, Webvision, the organization of the retina and visual system, http://webvision.med.utah.edu/book/electrophysiology/the-electroretinogram-clinical-pplications/ Search in Google Scholar

14. Renner AB, Kellner U, Fiebig B et al. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol, 2008,116(2), 97-109. Search in Google Scholar

15. ClinicalTrials.gov. Safety and efficacy of rAAV-hRS1 in patients with X-linked retinoschisis (XLRS). https://clinicaltrials.gov/ct2/show/NCT02416622?term=NCT02416622@rank=1, October 5, 2015. Accessed January 5, 2016. Search in Google Scholar

16. Min SH, Molday LL, Seeliger MW et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. Mol Ther, 2005, 12(4), 644-651. Search in Google Scholar

17. Park TK, Wu Z, Kjellstrom S et al. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther, 2009, 16(7), 916-926. Search in Google Scholar

18. Marangoni D, Wu Z, Wiley HE et al. Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits. Hum Gene Ther Clin Dev, 2014, 25(4), 202-211. Search in Google Scholar

eISSN:
2719-5384
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
4 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Vorklinische Medizin, Grundlagenmedizin, Immunologie, Klinische Medizin, andere