Х-зчеплений дермоїд рогівки
ORPHA:1661· ICD-10 Q13.4· X-linked corneal dermoid
Визначення(English summary)
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Neonatal