Table 2.

NDP-Related Retinopathies: Ocular Phenotypes

PhenotypeOcular Findings / AgeProgression / AgeVision
Norrie diseaseGrayish-yellow fibrovascular masses of immature retinal cells ("pseudoglioma") behind lens (i.e., retrolental), bilateral total retinal detachments (frequent) /
0-3 mos		Cataract, posterior synechiae (iris-to-lens adhesions), anterior synechiae (iris-to-cornea adhesions), iris atrophy, shallowing of anterior chamber, corneal opacification, band keratopathy, shrinking of globe secondary to loss of intraocular pressure (phthisis bulbi) /
3 mos to 8-10 yrs		Severely impaired or absent light perception
NDP-related PFV 1Fibrotic white stalk w/hyaloid vessel remnants extending from optic disc to posterior lens capsule (unilateral or bilateral) /
Birth		Cataract, growth restriction of globe, vitreoretinal traction, retinal exudation, retinal detachment, secondary glaucoma, phthisis bulbiVarying impairment; amblyopia common if left untreated
NDP-related FEVR 2Peripheral retinal avascularity ± congenital retinal folds, temporal macular dragging, fibrovascular scarring at ora serrata /
Birth		Retinal ischemia & neovascularization, retinal detachment (tractional &/or exudative; may be unilateral), subretinal exudation or hemorrhage /
≤20 yrs		Mild-to-severe impairment
NDP-related advanced ROP 3Retinal neovascularization, extraretinal fibrovascular proliferation, end-stage retrolental fibroplasia, vitreoretinal traction /
Premature birth		Partial (Stage 4) or complete (Stage 5) retinal detachmentMildly impaired-to-absent light perception
NDP-related Coats disease 4Unilateral retinal telangiectasia, exudationProgressive vascular leakage, subretinal exudation & fibrosis, retinal detachment (often exudative)Normal to impaired

FEVR = familial exudative vitreoretinopathy; PFV = persistent fetal vasculature; ROP = retinopathy of prematurity

1.
2.

NDP pathogenic variants are commonly identified in clinically diagnosed X-linked familial exudative vitreoretinopathy [Nikopoulos et al 2010, Yang et al 2012, Han et al 2020].

3.

In rare cases NDP pathogenic variants have been identified in those with an advanced retinopathy of prematurity phenotype [Hiraoka et al 2010, Li et al 2020].

4.

In a family with an NDP pathogenic variant, a female heterozygote had a mosaic phenotype (Coats disease), and her sons had classic ocular findings of Norrie disease [Black et al 1999]. This has been the only report published to date of Coats disease and an NDP pathogenic variant.

From: NDP-Related Retinopathies

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.