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
FZD4
LRP5
NDP
TSPAN12
ZNF408 		Exudative vitreoretinopathy (OMIM PS133780)AD
AR
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
PLK4
TUBGCP4
TUBGCP6 		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

1.

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

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.