[MIM 221 900, 611 308]

Very rare. Autosomal recessive transmission of a mutation of the ATOH7 gene (10q21.3) [MIM 221,900] but a few cases of autosomal dominant transmission [MIM 611,308] have been described. This most often unilateral disease is due to the absence of intrauterine resorption of the primary vitreous and the persistence, of the tunica vasculosa lentis and fetal hyaloid artery with the presence of a retrolental fibrovascular membrane.

This congenital non-syndromic absence of retinal adhesion leads to:

-        a disease of the anterior segment of the eye. Signs: microphthalmia, leukocoria, cataract, glaucoma, stretching of the ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes

-        or a subtype of disease of the posterior segment: microphthalmia, leukocoria, presence of a fold or detachment of the retina, membranes in the vitreous body,  hypoplasia or dysplasia of the optic nerve and optic rod.

Most patients have a combination of these two subtypes.

Anesthetic implications:

blindness, glaucoma

References : 

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Updated: September 2022