Bilateral persistent fetal vasculature and a chromosome 10 mutation including COX15.
Persistent fetal vasculature (PFV) is a rare congenital syndrome in which the intraocular fetal vasculature of the primary vitreous fails to regress before birth. Anterior findings include pupillary membranes, cataract, and retrolenticular opacities; posterior findings include stalk tissue originating from the optic disc and connecting anteriorly to the posterior lenticular capsule, retinal folds, retinal dysplasia, and secondary tractional retinal detachment. The affected eye is commonly microphthalmic because the transocular pathologic structures prevent its growth. PFV is typically unilateral, sporadic, and not associated with systemic abnormalities. In the rare cases in which PFV is present bilaterally, systemic disorders need to be considered. Herein, we present a previously unreported association of bilateral PFV and an extremely rare syndrome caused by mutations in COX15 (cytochrome c oxidase assembly protein) on chromosome 10.
Hasbrook M, Yonekawa Y, Van Laere L, Shah AR, Capone A Jr. Bilateral persistent fetal vasculature and a chromosome 10 mutation including COX15. Can J Ophthalmol. 2017 Dec;52(6):e203-e205. doi: 10.1016/j.jcjo.2017.04.019. Epub 2017 Jul 10. PubMed PMID: 29217041.