Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation

Abstract

Persistent hyperplastic primary vitreous (PHPV) is an ocular developmental disorder resulting from incomplete apoptosis of the embryonic hyaloid vasculature. Unilateral PHPV is traditionally associated with a poor prognosis because of the challenges associated with managing progressive anisometropic amblyopia. We report a child with unilateral PHPV who underwent cataract extraction, primary posterior capsulotomy with anterior vitrectomy and intraocular lens implantation followed by combined trabeculectomy/trabeculotomy within the first 8 weeks of life. Intensive optometric and orthoptic input was required for many years to manage the increasing anisometropic amblyopia with final visual acuity of 20/40 unaided in the affected eye and without evidence of glaucomatous optic neuropathy. This case illustrates the excellent visual outcome possible in a child with complex, unilateral PHPV using an intensive management approach comprising: early surgical intervention for congenital cataract and secondary glaucoma, meticulous monitoring of refraction, visual acuity and intraocular pressure and motivated parents who engaged in the management.

Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants

“…Diseases like familial exudative vitreoretinopathy, retinopathy of prematurity, Norrie disease, incontinentia pigmenti, and toxocarosis are accepted as possible T A B L E 1 (Continued) Aran et al, 2016Guemez-Gamboa et al, 2018 Reference reasons for congenital retinal folds (Gilmour, 2015). Persistent hyperplastic primary vitreous and exudative retinopathy are associated with retinal vascular development defects (Gilmour, 2015;Yusuf et al, 2015). Of interest, Pcdh12 is highly expressed in choroid vessels of the eye in mice (Rampon et al, 2005) and Pcdh12 knockout mice showed structural and functional impairments of the arterial blood vessels (Philibert et al, 2012).…”

Atypical anterior persistent hyperplastic primary vitreous: report of a rare case

“…However, recent evidence indicates that the prognosis of surgical intervention is related to the time window of visual development in children. In young children, surgical treatment followed by refractive correction and treatment for amblyopia is very likely to restore vision to some degree [12,13]. Even in some adult patients, vitrectomy and crystallography may also lead to exponential improvements in vision.…”

The Outcome of Manual Small Incision Cataract Surgery and Anterior Vitrectomy for Persistent Fetal Vasculature in an 18-Year-Old Woman: A One-Year Follow-Up

“…PFV is an uncommon condition that may be seen in pediatric ophthalmic practice while screening for retinopathy of prematurity and other ocular conditions associated with prematurity. In the newborn, the classical presentation of PFV includes micro-ophthalmia, cataract, and leukocoria [ 9 , 13 ]. PFV is usually unilateral but bilateral when associated with syndromes such as Norrie disease [ 4 , 10 ].…”

“…Morphologically, PFV can be anterior, posterior, or a combination of both [ 6 ]. Anterior PFV is characterized by one, some, or all of the following features: a retrolental opacity (Mittendorf dot), elongated ciliary processes, cataract, shallow anterior chamber, poor pupil dilation, microphthalmos, microcornea, and glaucoma [ 7 ] while the posterior PFV has the following features: the stalk of tissue attached to the optic nerve (Bergmeister's papillae), retinal folds, dysplasia, retinal detachment, and varying degrees of optic nerve dysplasia [ 8 , 9 ]. The prevalence rate of PFV is unknown, however, published articles suggest that it is responsible for about 5% of all cases of blindness [ 10 ].…”

“…Even after a successful surgical operation, the visual function may still be suboptimal, so continued follow-up is essential. Visual rehabilitation postoperatively requires good optometric and orthoptic care and includes the use of glasses, contact lenses, eye patching to treat amblyopia, and monitoring of intraocular pressure to detect the development of glaucoma [ 6 , 9 , 11 ].…”