Дистрофія конусних стрижнів
ORPHA:1872· ICD-10 H35.5· Cone rod dystrophy
Визначення(English summary)
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Вік початку
- Adolescent, Adult, Childhood