Retinoschisis, Juvenile: Multimedia

References

1. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. Oct 1997;17(2):164-70. [Medline].

2. Apushkin MA, Fishman GA. Use of dorzolamide for patients with X-linked retinoschisis. Retina. Sep 2006;26(7):741-5. [Medline].

3. Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina. Jul-Aug 2005;25(5):612-8. [Medline].

4. Bergen AA, ten Brink JB, van Schooneveld MJ. Efficient DNA carrier detection in X linked juvenile retinoschisis. Br J Ophthalmol. Jul 1995;79(7):683-6. [Medline].

5. Brucker AJ, Spaide RF, Gross N, Klancnik J, Noble K. Optical coherence tomography of X-linked retinoschisis. Retina. Feb 2004;24(1):151-2. [Medline].

6. Dahl N, Pettersson U. Use of linked DNA probes for carrier detection and diagnosis of X-linked juvenile retinoschisis. Arch Ophthalmol. Oct 1988;106(10):1414-6. [Medline].

7. Forsius HJ, Vainio-Mattila B, Erikson A. X-linked hereditary retinoschisis. Br J Ophthalmol. 1962;46:678-681.

8. Gao H, Kusumi R, Yung CW. Optical coherence tomographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. Jul 2005;123(7):1006-8. [Medline].

9. Gehrig AE, Warneke-Wittstock R, Sauer CG, Weber BH. Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. Mamm Genome. Mar 1999;10(3):303-7. [Medline].

10. Ghajarnia M, Gorin MB. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. Apr 2007;125(4):571-3. [Medline].

11. Greene JM, Shakin EP. Optical coherence tomography findings in foveal schisis. Arch Ophthalmol. Jul 2004;122(7):1066-7. [Medline].

12. Helve J. Colour vision in X-chromosomal juvenile retinoschisis. Mod Probl Ophthal. 1971;11:122-129.

13. Ide CH, Wilson RJ. Juvenile retinoschisis. Br J Ophthalmol. Aug 1973;57(8):560-2. [Medline].

14. Joshi MM, Drenser K, Hartzer M, Dailey W, Capone A Jr, Trese MT. Intraschisis cavity fluid composition in congenital X-linked retinoschisis. Retina. Sep 2006;26(7 Suppl):S57-60. [Medline].

15. Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci. Aug 2007;48(8):3837-45. [Medline].

16. Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. 2007;13:804-12. [Medline].

17. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol. Aug 1972;88(2):131-8. [Medline].

18. McMahon TT, Rosenthal BP. X-linked juvenile retinoschisis. J Am Optom Assoc. Jan 1983;54(1):55-61. [Medline].

19. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther. Oct 2005;12(4):644-51. [Medline].

20. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci. Mar 2001;42(3):816-25. [Medline].

21. Pawar H, Bingham EL, Hiriyanna K, Segal M, Richards JE, Sieving PA. X-linked juvenile retinoschisis: localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC. Hum Hered. Nov-Dec 1996;46(6):329-35. [Medline].

22. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. Apr 1987;105(4):513-6. [Medline].

23. Regillo CD, Custis PH. Surgical management of retinoschisis. Curr Opin Ophthalmol. Jun 1997;8(3):80-6. [Medline].

24. Reid SN, Yamashita C, Farber DB. Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells. J Neurosci. Jul 9 2003;23(14):6030-40. [Medline].

25. Sabates FN. Juvenile retinoschisis. Am J Ophthalmol. Oct 1966;62(4):683-8. [Medline].

26. Shastry BS, Hejtmancik FJ, Margherio RT, Trese MT. Linkage mapping of new X-linked juvenile retinoschisis kindreds using microsatellite markers. Biochem Biophys Res Commun. Mar 27 1996;220(3):824-7. [Medline].

27. Shimazaki J, Matsuhashi M. Familial retinoschisis in female patients. Doc Ophthalmol. Mar 1987;65(3):393-400. [Medline].

28. Souied EH, Goritsa A, Querques G, Coscas G, Soubrane G. Indocyanine green angiography of juvenile X-linked retinoschisis. Am J Ophthalmol. Sep 2005;140(3):558-61. [Medline].

29. Suganthalakshmi B, Shukla D, Rajendran A, Kim R, Nallathambi J, Sundaresan P. Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Mol Vis. 2007;13:611-7. [Medline].

30. Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol. Mar-Apr 2004;49(2):214-30. [Medline].

31. Teixeira C, Rocha-Sousa A, Trump D, Brandao E, Falcao-Reis F. Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. Eur J Ophthalmol. Sep-Oct 2005;15(5):638-40. [Medline].

32. The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet. Jul 1998;7(7):1185-92. [Medline].

33. Trese MT, Ferrone PJ. The role of inner wall retinectomy in the management of juvenile retinoschisis. Graefes Arch Clin Exp Ophthalmol. Nov 1995;233(11):706-8. [Medline].

34. Verdaguer J. Juvenile retinal detachment. Pan American Association of Ophthalmology and American Journal of Ophthalmology Lecture. Am J Ophthalmol. Feb 1982;93(2):145-56. [Medline].

35. Wu G, Cotlier E, Brodie S. A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet. Feb 1985;5(1-2):13-7. [Medline].

36. Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. Jul 25 2003;278(30):28139-46. [Medline].

37. Yanoff M, Kertesz Rahn E, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol. Jan 1968;79(1):49-53. [Medline].

38. Yassur Y, Nissenkorn I, Ben-Sira I, Kaffe S, Goodman RM. Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol. Sep 1982;94(3):338-43. [Medline].

39. Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, et al. 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. Sep 2004;45(9):3279-85. [Medline].

Further Reading

Keywords

X-linked juvenile retinoschisis, XJR, congenital cystic retinal detachment, congenital vascular veils in the vitreous, vitreous veils

Contributor Information and Disclosures

Author

Mi-Kyoung Song, MD, Vitreoretinal Surgeon, Eye Associates of New Mexico
Mi-Kyoung Song, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Retina Specialists, and New Mexico Medical Society
Disclosure: Nothing to disclose.

Coauthor(s)

Kent W Small, MD, Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group
Kent W Small, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American College of Physician Executives, American Medical Association, American Medical Informatics Association, American Ophthalmological Society, American Society of Human Genetics, Association for Research in Vision and Ophthalmology, California Medical Association, Macula Society, Pan-American Association of Ophthalmology, and Retina Society
Disclosure: Nothing to disclose.

Medical Editor

Russell P Jayne, MD, Consulting Vitreoretinal Surgeon, The Retina Center at Las Vegas
Russell P Jayne, MD is a member of the following medical societies: American Medical Association, American Society of Cataract and Refractive Surgery, and American Society of Retina Specialists
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

Steve Charles, MD, Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine
Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Club Jules Gonin, Macula Society, and Retina Society
Disclosure: Alcon Laboratories Consulting fee Consulting

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.