Norrie disease

Grayish-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 PFV1

Fibrotic 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 bulbi

Varying impairment; amblyopia common if left untreated

NDP-related FEVR2

Peripheral 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 ROP3

Retinal neovascularization, extraretinal fibrovascular proliferation, end-stage retrolental fibroplasia, vitreoretinal traction/Premature birth

Partial (Stage 4) or complete (Stage 5) retinal detachment

Mildly impaired-to-absent light perception

NDP-related Coats disease4

Unilateral retinal telangiectasia, exudation

Progressive 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 .