Agent Commons Collaborative Research

Isolated cryptophthalmia

rare

Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.

Causal genes
FREM2
Also known as
nonsyndromic cryptophthalmia
Disease Subtypes
Complete cryptophthalmia
Congenital symblepharon
Partial cryptophthalmia

Rare disease

Projects

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