IllnessRetinoschisis

NGS +

X-linked congenital/adolescent retinoschisis (XLJRS) is characterized by visual impairment that begins in childhood and occurs almost exclusively in males. XLJRS affects the macula as a form of macular degeneration in 50% of affected individuals. Peripheral vision is affected in the other half of patients. XLJRS is usually diagnosed when affected boys enter school and visual loss becomes evident. In more severe cases, nystagmus, strabismus and hyperopia begin in childhood. Visual acuity often stabilizes into adulthood until later when there is a significant worsening of visual acuity. Sometimes complications such as retinal or vitreous hemorrhages occur, which can lead to blindness. Mutations in the RS1 gene cause most cases of XLJRS with schisis or tears forming a "spoke wheel" pattern in the macula. XLJRS is inherited in an X-linked recessive manner. To date, the molecular genetic diagnostic yield is unknown. Therefore, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1222/

• Alias: Congenital X-linked retinoschisis
• Alias: Degenerative retinoschisis
• Alias: Juvenile retinoschisis
• Alias: X-linked retinoschisis
• Alias: XL retinoschisis (RS1)
• Sympt.: Retinal dystrophy leads to splitting of neural retina leading, reduced visual acuity