Сімейна ізольована артеріолярна звивистість сітківки
ORPHA:75326· ICD-10 H35.0· Familial isolated retinal arteriolar tortuosity
Визначення(English summary)
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Childhood