Retinoschisis
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
Domino, Frank J., et al., editors. "Retinoschisis." 5-Minute Clinical Consult, 33rd ed., Wolters Kluwer, 2025. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688708/all/Retinoschisis.
Retinoschisis. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2025. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688708/all/Retinoschisis. Accessed December 12, 2024.
Retinoschisis. (2025). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (33rd ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688708/all/Retinoschisis
Retinoschisis [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2025. [cited 2024 December 12]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688708/all/Retinoschisis.
* Article titles in AMA citation format should be in sentence-case
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