Progressive oculo-acoustico-cerebral degeneration
X-linked recessive (disease occurs only in male children of unaffected female carriers)
Retinal malformation, deafness, retardation
partial/complete retinal detachment, vitreoretinal bleed (maybe neonatal), retrolental mass, cataract, glaucoma, ON atrophy, phthisis bulbi.
absence of retinal ganglion cells.
Some have suggested that this is similar to Coats' disease.