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Purpose: Distinguishing posterior persistent fetal vasculature (PFV) from retinal detachment (RD) may be very challenging clinically and ultrasonographically, as they share common morphological features. However, it is crucial, considering their substantially distinct management and treatment. We aimed to assess the relevance of quantitative colour Doppler flow imaging to distinguish PFV from RD in children., Methods: This retrospective bi-centre study included 66 children (30 females and 36 males, mean age: 244 ± 257 days) with a clinically suspected diagnosis of RD or posterior PFV. All children underwent systematic and standardized conventional ultrasonography and colour Doppler flow imaging under general anaesthesia with a qualitative and quantitative analysis of the retrolental tissue's vascularization. Peak systolic velocity, end-diastolic velocity and resistive index were recorded for analysis. Whenever available, surgical findings were deemed gold standard for diagnosis. A Mann-Whitney U-test was used to compare quantitative colour Doppler flow imaging data., Results: Peak systolic velocity and end-diastolic velocity were significantly lower in children with PFV versus RD: 2.7 (IQR: 0.5) versus 5.1 (IQR: 2.8), p < 0.001, and 0.0 (IQR: 0.0) versus 2.0 (IQR: 1.2), p < 0.001, respectively. Resistive index was significantly higher in children with PFV versus RD: 1 (IQR: 0) versus 0.6 (IQR: 0.1), p < 0.001. Area under curves (AUCs) were of 0.94, 0.99 and 1, respectively. No differences between PFV and RD were observed on structural ultrasound or qualitative analysis of colour Doppler., Conclusion: Quantitative colour Doppler flow imaging has an excellent accuracy in distinguishing PFV from RD in children. It may help to improve management and treatment., (© 2021 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

A 6-year-old systemically healthy child presented with visual acuity of 1/60, N18 oculusdextrus (OD), and 6/18, N6 oculus sinister (OS). Slit-lamp biomicroscopy revealed suspicious bilateral inferotemporal pigmented ciliary body (CB) tumour, protruding posterior capsule and temporal posterior subcapsular cataract oculus uterque. Anterior segment optical coherence tomography, ultrasonography, ultrasonic biomicroscopy and Scheimpflug imaging revealed protruding posterior capsule and cortex abutting but not arising from CB suggestive of peripheral pigmented posterior lenticonus with hypermetropia (axial length 20.27 mm OD and 19.97 mm OS). Aberrometry revealed high internal aberrations and low Dysfunctional Lens Index (DLI). Lens aspiration with intraocular lens implantation in the bag OD and contact lens correction OS were undertaken. The child had a postoperative visual gain of 3/60, N18 with improved aberrometric profile OD, and was advised amblyopia therapy. Rarely posterior lenticonus can mimic a CB mass. Multi-modal ocular imaging can aid in its diagnosis and management. DLI may serve as a useful indicator of surgery in such cases., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Leukocoria in children should always raise the concern for retinoblastoma. However, a variety of non-neoplastic conditions can also present with leukocoria, including persistent fetal vasculature (PFV), a nonhereditary, congenital anomaly caused by a failure of the fetal intraocular vasculature to regress during development. Classically PFV presents with features that make it easily distinguishable from retinoblastoma, including microphthalmia, retrolental fibrovascular membrane, central dragging of ciliary processes, and cataract. We present an atypical case of PFV in a 9-month-old boy who presented with the unusual features of axial myopia and platyphakia., (Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

We describe a case of bilateral persistent fetal vasculature (PFV) in a 3-month-old boy who presented with bilateral white pupillary reflex and a possible diagnosis of retinoblastoma. On ultrasonography, there was an echogenic band in the posterior segment of both eyes which connected the posterior surface of the lens capsule to the optic disc. Colour Doppler revealed the presence of vascularity in the band along its entire length. No calcification or mass lesion was seen. These findings are diagnostic of PFV. Most cases of PFV are unilateral and sporadic in nature and closely mimic retinoblastoma. Although rare, PFV should be considered in the differential diagnosis when examining a case of bilateral leukocoria. Paediatricians should be aware of this rare but serious entity., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Case Report: A case is presented of a 4 week-old female neonate with Peters anomaly (PA) and unilateral persistent foetal vasculature (PFV) referred to our centre due to esotropia. At 12 weeks of age, a penetrating keratoplasty and vitrectomy were performed without major complications in the immediate post-operative period. The patient is currently under an intensive treatment for amblyopia and secondary glaucoma., Discussion: Surgical treatment of PFV is controversial, with prevention of amblyopia, phthisis, and glaucoma being the main reasons for it. Patients with unilateral PFV and type II PA could be good candidates for this combined surgical procedure., (Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

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.

The purpose is to document a case of persistent hiperplastic primary vitreous (PHPV) with atypical Bergmeister's papilla and patent hialoid artery that had its conclusive diagnosis done by doppler ultrasound. We report a case of child, who had unilateral leucokoria. This child's fundoscopic examination showed a white mass on the optic nerve that extended over to adjacent retina. Performed ultrasound that remained a doubt with the following diagnostic hypotheses: persistent hiperplastic primary vitreous, granuloma (toxocara), astrocytic hamartoma and retinoblastoma. The diagnosis was only established when the doppler ultrasound showed a blood flow inside of the membrane, thus confirming the diagnosis of persistent hiperplastic primary vitreous associated with the Bergmeister'spapilla.

Purpose: To observe the ultrasonographic features of patients with persistent hyperplastic primary vitreous (PHPV)., Methods: Thirty-two subjects (34 eyes) diagnosed with PHPV were evaluated by ultrasonography., Results: The ultrasonography demonstrated a retrolental mass extending from the optic disc to the posterior lens capsule, manifested as band, regular triangle, or inverted triangle shapes. The band-shaped echo was characterized as a linear band extended from the optic disc to the posterior lens capsule. The regular triangle-shaped echo was manifested as a membranous septum with a wide base extended from the optic disc to the posterior lens capsule, and the anterior part became narrower. The inverted triangle echo was characterized as a membranous septum with a narrow base extended from the optic disc to the posterior lens capsule, and the anterior part become wider., Conclusion: Ultrasonography is noninvasive and safe, and can offer real-time display of intraocular structures. This is especially important in individuals who are uncooperative or unsuitable for fundus examination due to media opacity. Combined with clinical feature, ultrasonography provides vital evidence for the diagnosis of PHPV. Thought observing ultrasonographic feature, clinicians could evaluate the size, position and severity of lesions in PHPV patients, and which would be helpful to determine the surgical approach and clinical prognosis.

We describe an unusual case of malignant teratoid medulloepithelioma in which distinct populations of tumor cells with different immunohistochemical staining patterns existed within the same eye. A neuroblastic population exhibited atypical features of retinoblastoma, including organization into pseudo-Flexner-Wintersteiner and Homer-Wright rosettes. Other populations evolved in strikingly different patterns, with large fields of cells resembling astrocytes and intervening streams of spindle cells that suggested smooth muscle. The spindle cell population was negative for smooth muscle antigen but stained positively for desmin, myoglobin, and myogenin. Under high magnification, the desmin, myoglobin, and myogenin-staining cells exhibited striations consistent with skeletal muscle differentiation., (Published by Mosby, Inc.)

Background: Eyes with persistent fetal vasculature (PFV) may be mistaken for retinoblastoma and provide a diagnostic challenge., Objective: This study aimed to evaluate the role of color Doppler imaging (CDI) in children with persistent fetal vasculature., Materials and Methods: Eyes with a diagnosis of PFV were evaluated by CDI., Results: Twenty eyes of 17 children were included. All had a confirmed diagnosis of PFV based on one or more of the following: clinical findings on funduscopy, characteristic findings on imaging modalities (ophthalmic gray-scale US, CT and/or MRI), typical findings observed intraoperatively, and histopathological analysis (after enucleation in one case). Blood flow within the PFV was demonstrated in 19 eyes in this series., Conclusion: CDI is a noninvasive diagnostic tool that may add useful information on the presence of blood flow within the PFV and may substantiate the diagnosis of PFV in cases of uncertainty.

Four patients with prenatal sonographic findings suggestive of ophthalmic pathology were detected in utero. The definitive diagnoses of infantile fibrosarcoma, persistent hyperplastic primary vitreous/persistent fetal vasculature, Fraser syndrome, and microphthalmia with coloboma and retrobulbar cyst were made postnatally. High-resolution intrauterine sonograms expedited ophthalmic referral and influenced prenatal planning., (Copyright 2012, SLACK Incorporated.)

Complex ultrasound examination was performed in 108 children with unilateral congenital cataract (UCC) and persisting hyperplastic primary vitreous syndrome (PHPVS) to reveal indications and contraindications for surgery. The presence of functioning vessels with linear blood flow velocity (LBFV) measurement was performed in fibrovascular band and retrolenticular membrane (RLM) in different stages of PHPVS using color Doppler and energetic mapping. The echographic density of fibrovascular band and RLM was estimated using echodensitometry. The results of the study showed correlation of PHPVS severity and fibrovascular band diameter, LBFV in the vessels of the band and echographic density of the band, RLM and their thickness as well.

In children with persistent hyperplastic primary vitreous body (PHPVB) concurrent with unilateral congenial cataracts (UCC), combined ultrasound study used to examine blood supply to and hemodynamics of the hyaloid system--a fibrovascular band. To determine the prognosis of a surgical intervention in the mode of color and energy Doppler mapping in the persistent band, retrolenticular membrane, the authors studied whether they had functioning vessels and linear blood flow velocity in different degrees of PHPVB. Based on the results of combined ultrasound study, the authors defined indications for and contraindications to surgical treatment of UCC concurrent with PHPVB in order to prevent hemorrhagic complications (hyphema, hemophthalmos, hyaloid vascular bleeding), as well as the optimal time of surgical treatment.

Background: Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV)., Materials and Methods: Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed., Results: A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level., Conclusion: We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.

A case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

Adenoma of the nonpigmented ciliary epithelium developed in a 36-year-old woman, causing decreased visual acuity and a total cataract in the involved eye. Ultrasound biomicroscopy disclosed associated persistent hyperplasic primary vitreous (PHPV). Sectoral cyclectomy with removal of the mass and intracapsular cataract extraction were performed, and the tumor was submitted for histological examination. Although ciliary adenomas arising in adults are considered to be acquired, the associated PHPV suggests a congenital origin in view of the tumor's possible interference in the normal replacement of the primary vitreous by the secondary vitreous.

Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye characterized by the presence of a vascular membrane located behind the lens. We report, for the first time in the literature, the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to a diagnosis of bilateral PHPV, in a fetus at 23 weeks' gestation. Histological examination at postmortem confirmed the prenatal diagnosis of bilateral PHPV and cataract. A thorough ultrasound examination of the fetal eye in cases with cataract is recommended., ((c) 2008 ISUOG. Published by John Wiley & Sons, Ltd.)

Purpose: To determine individual risk factors for the development of postoperative complications after pediatric cataract surgery in the first 18 months of life., Design: Interventional, consecutive case series., Methods: We retrospectively reviewed the records of 71 eyes of 46 children who underwent surgery for congenital cataract within the first 18 months of life. A limbal approach bimanual lens aspiration, posterior capsulorrhexis, and anterior vitrectomy without intraocular lens implantation was performed in all children. We examined the interrelationships of operative and postoperative complications with other variables such as patient age, family history, or ocular abnormalities. The mean follow-up period was 39 months., Results: The most frequent postoperative complications were late-onset open-angle glaucoma (10.8%) and vitreous hemorrhage (10.8%), whereas early-onset glaucoma (4.6%) was less common. Secondary cataract was observed in seven eyes (9.2%). We determined a family history of aphakic glaucoma in first-degree relatives (P = .007) as well as cataract surgery in the first three months of life (P = .039) and nuclear cataracts (P = .0009) to be strong predictors of late-onset glaucoma. Secondary cataract formation was associated strongly with lensectomy in the first five months of life. The diagnosis of postoperative hemorrhages was associated significantly with the presence of persistent fetal vasculature (P < .0001)., Conclusions: Patients with preoperative predictors at presentation such as young age at the time of surgery, a family history of aphakic glaucoma, nuclear cataract, or persistent fetal vasculature syndrome offer a clear target for extensive postoperative care after congenital cataract surgery.