Вроджений амавроз Лебера
ORPHA:65· ICD-10 H35.5· Leber congenital amaurosis
Визначення(English summary)
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Infancy, Neonatal