Синдром блефароптозу-міопії-ектопії
ORPHA:1259· ICD-10 Q15.8· Blepharoptosis-myopia-ectopia lentis syndrome
Визначення(English summary)
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood