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Isolated cryptophthalmia

ORPHA:91396· ICD-10 Q11.2

Definition

A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Antenatal, Neonatal