Table 3.

Pediatric Retinal Diseases in the Differential Diagnosis of CTNNB1 Neurodevelopmental Disorder and Exudative Vitreoretinopathy

Gene(s)DiffDx DisorderMOIClinical Features of DiffDx Disorder
Overlapping w/CTNNB1-NDDDistinguishing from CTNNB1-NDD
Exudative vitreoretinopathy (OMIM PS133780)AD
XL 1
Exudative vitreoretinopathyOther systemic involvement uncommon
NDP Norrie disease (See NDP-Related Retinopathies.)XLDD & various eye complications incl retinal detachmentPresence of retrolental pseudoglioma & incomplete foveal development
KIF11 Microcephaly ± chorioretinopathy, lymphedema, or intellectual disability (OMIM 152950)ADMicrocephaly & DD; various eye involvement incl exudative vitreoretinopathyLymphedema
Microcephaly & chorioretinopathy (OMIM PS251270)ARMicrocephaly & DD; various eye involvement incl exudative vitreoretinopathyCerebral & cerebellar atrophy; pachygyria

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; DiffDx = differential diagnosis; XL = X-linked


NDP-related exudative vitreoretinopathy is inherited in an X-linked manner. FZD4-, TSPAN12-, and ZNF408-related exudative vitreoretinopathy are inherited in an autosomal dominant manner. LRP5-related exudative vitreoretinopathy is inherited in an autosomal dominant or autosomal recessive manner.

From: CTNNB1 Neurodevelopmental Disorder

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