BACKGROUND: Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a clinical entity that traditionally presents with leukocoria, microphthalmia, retinal dysplasia, or eyeball shrinkage which is associated with poor vision. However, there is a dearth of literature on cases of PHPV in adulthood or with asymptomatic occurrence. This report presents the clinical and pathological findings of a non-typical PHPV case and discuss the current knowledge for this condition.
METHODS: A 68-year-old healthy male was referred to our outpatient department for evaluation of age-related cataract without other visual symptoms. Preoperative fundus examination occasionally detected an isolated stalk-like band extending to the posterior pole of the eye with normal central vitreous and retina. Other ocular examinations including b-mode ultrasonography, optical coherence tomography did not unveil any abnormalities, which caused diagnostic uncertainty. We referred to cataract surgery along with histopathological study, that revealed characteristics of PHPV including fibrous connective tissues mainly composed of fibrocyte proliferation and a very few capillary vessels. Thereafter, a definitive diagnosis of non-typical PHPV was established.
CONCLUSIONS: Our case is unique due to it was not discovered until adulthood, presence with only age-related cataract, and accompanied with normal central vitreous and retina. Histopathological explorations lead to an accurate diagnosis of the condition. Those results broaden the phenotype spectrums of PHPV and further provide clinical clues for the cognition of the disease.

OBJECTIVE: To study the different types and frequency of pseudoretinoblastoma (pseudoRB) lesions who present to a retinoblastoma centre due to concern that the condition may be retinoblastoma.
METHODS: A retrospective chart review of 341 patients presenting sporadically to the Royal London Hospital from January 2009 to December 2018.
RESULTS: 220 patients (65%) were confirmed to have retinoblastoma, while 121 (35%) had pseudoRB. There were 23 differential diagnoses in total. The top 3 differential diagnoses were Coats\' disease (34%), Persistent Foetal Vasculature (PFV) (17%) and Combined Hamartoma of Retina and Retinal Pigment Epithelium (CHR-RPE) (13%). PseudoRBs differed with age at presentation. Under the age of 1 (n = 42), the most likely pseudoRB conditions were PFV (36%), Coats\' disease (17%) and CHR-RPE (12%). These conditions were also the most common simulating conditions between the ages of 1 and 2 (n = 21), but Coats\' disease was the most common in this age group (52%), followed by CHR-RPE (19%) and PFV (14%). Between the ages of 2 and 5 (n = 32), Coats\' disease remained the most common (44%) pseudoRB lesion followed by CHR-RPE (13%), or PFV, Retinal Astrocytic Hamartoma (RAH), familial exudative vitreoretinopathy (FEVR) (all 6.3%). Over the age of 5 (n = 26), pseudoRBs were most likely to be Coats\' disease (35%), RAH (12%), Uveitis, CHR-RPE, FEVR (all 7.7%).
CONCLUSIONS: 35% of suspected retinoblastoma cases are pseudoRB conditions. Overall, Coats\' disease is the most common pseudoRB condition, followed by PFV. Hamartomas (CHR-RPE & RAH) are more prevalent in this cohort, reflecting improvements in diagnostic accuracy from referring ophthalmologists.

The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

Persistent fetal vasculature (PFV) is a spectrum of congenital anomalies caused by complete or partial failure of the ocular fetal vasculature to regress. We report the visual and anatomic outcomes in a large cohort of patients who underwent early surgery for PFV.
We retrospectively reviewed the medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV without primary intraocular lens implantation through limbal or pars plana/plicata approach. Inclusion criteria were surgery prior to 7 months of age, with at least 12 months of follow-up. Eyes with severe posterior segment involvement and retinal detachment deemed beyond repair were excluded.
A total of 58 patients met inclusion criteria. Mean age at surgery was 2.1 ± 1.5 months. Mean follow-up was 6.7 ± 4.2 years. At final follow-up, 19 eyes (33%) had visual acuity better than 1.0 logMAR. Thirty-three eyes (57%) developed 1 or more postoperative adverse events: glaucoma in 21 (36%) and retinal detachment in 11 (19%), 8 of which occurred in eyes that had pars plana or pars plicata incisions (P = 0.002). In patients with limbal incisions, 17 of 40 (43%) achieved a visual acuity better than 1.0 logMAR, compared with 2 of 18 patients (11%) with a pars plana/pars plicata incision (P = 0.03).
In our study cohort, early surgery for PFV achieved functional visual acuity in about one-third of patients. Limbal approach to surgery may result in better visual acuity and anatomic results.

OBJECTIVE: Persistent fetal vasculature (PFV) is a unique ocular disorder usually presenting early in life. The unregressed embryonal hyaloid vasculature poses a risk of severe ocular complications leading to decreased visual acuity. Surgery is the mainstay of therapy in complicated cases. We describe the clinical presentation and surgical treatment of PFV managed at our center from 2012 to 2015.
METHODS: The study is a case series comprised eight patients who were diagnosed with complicated severe PFV. All were managed with a tailored surgical approach. The clinical characteristics, medical and surgical treatment, and follow-up findings of each case are described.
RESULTS: There were six males and two females. Surgical intervention involved anterior or posterior vitrectomy, lens extraction, and intraocular lens implantation. Hyaloid stalk removal with release of ciliary traction was variably utilized in selected cases. Endodiathermy controlled intraocular bleeding, and intraocular scissors proved helpful in anterior PFV for disinserting the ciliary process from an abnormally thickened posterior lens capsule. Visual outcomes differed in each case, depending on multiple clinical factors.
CONCLUSIONS: Severe complex PFV presents a therapeutic challenge. A tailored surgical approach with meticulous postoperative management is essential for visual rehabilitation.

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye caused by the incomplete regression of primary vitreous with the abnormal persistence of hyaloid vasculature. Aim of this work is to report the case of unilateral PHPV in a 4-week-old child presented to our Department with microphtalmia and leukocoria in the right eye. We will describe the main ocular, echographic and magnetic resonance findings that are essential to conduct a right differential diagnosis.