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Retinoschisis

Retinoschisis is a topic covered in the 5-Minute Clinical Consult.

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Basics

Retinoschisis is a condition in which a portion of the retina has separated into two layers, resulting in visual field defects.

Description

Types

  • X-linked recessive retinoschisis (also referred to as hereditary retinoschisis or juvenile X-linked recessive retinoschisis)
    • Splitting of inner retinal layers, predominantly in the central retina
    • Most common cause of macular degeneration in young men
  • Acquired retinoschisis (also referred to as adult degenerative retinoschisis)
    • Splitting of outer retinal layers, predominantly in the peripheral retina and most often inferotemporally
    • Typically occurs in individuals >40 years

Epidemiology

Prevalence
  • X-linked recessive: between 1:30,000 and 1:15,000
  • Acquired: between 1:60 and 1:14 among persons >40 years

Etiology and Pathophysiology

  • X-linked recessive
    • Inheritance of RS1 gene mutation (1)
  • Acquired
    • Not inherited
    • Sporadic in hyperopic patients

Genetics
  • X-linked recessive
    • Mechanism: Mutation in discoid, in domain of retinoschisin (RS1) gene. Retinoschisin is a 224-amino acid membrane protein involved in cellular adhesion and retinal integrity (1).
    • X-linked recessive inheritance
      • Female carriers typically with no clinical signs
      • No male-to-male transmission
  • Acquired
    • Multifactorial

Risk Factors

  • X-linked recessive
    • Male gender
    • Positive family history
  • Acquired
    • Age >40 years

General Prevention

Not applicable to either type of retinoschisis

Commonly Associated Conditions

  • X-linked recessive
    • Axial hypermetropia
    • Posterior staphyloma formation
  • Acquired
    • Hyperopia

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Citation

Stephens, Mark B., et al., editors. "Retinoschisis." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816203/all/Retinoschisis.
Retinoschisis. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816203/all/Retinoschisis. Accessed April 19, 2019.
Retinoschisis. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816203/all/Retinoschisis
Retinoschisis [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 19]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816203/all/Retinoschisis.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Retinoschisis ID - 816203 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816203/all/Retinoschisis PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -