(see also: Familial exudative vitreoretinopathy)

Extremely rare. Group of congenital anomalies of the retinal vascularization that can lead to choroidal neovascularization, retinal detachment, hemorrhage and progressive vision loss.

Various forms:

-        syndromic forms: Norrie disease, Stickler and Wagner syndromes (see these terms).

-        isolated or familial forms with autosomal dominant or recessive inheritance, linked to a mutation in one of the genes involved in the Wnt-beta-catenin pathway: NDP (Norrin) (Xp11.4-p11. 3) (MIM 300 658), FZD4 (frizzled 4) (11q14-q21) (MIM 604 579), TSPAN12 (tetraspanin 12) (7q31.31) (MIM 613 138), LRP5 (lipoprotein receptor 5) (11q13. 4) (MIM 603506), KIF11 (microtubule motor), ZNF408 (zinc finger protein 408) (11p11.2) or CTNNB1 (cadherin associated protein beta 1) (3p22)(MIM 116 806).

Sometimes associated with: microphthalmia, cataract, exudative vitreoretinopathy.

Anesthetic implications:

visual disturbances, eye protection, check for associated anomalies

References :

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Updated: October 2023