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