Papillary Traction Due to the Posterior Form of a Bilateral Persistent Fetal Vasculature Mimicking Papilledema.

Persistent fetal vasculature (PFV), or persistent hyperplastic primary vitreous (PHPV), is a congenital developmental disorder characterized by a failure of resorption of the hyaloid system. It typically presents unilaterally and has three forms: anterior, posterior, and mixed. In this case report, a seven-year-old patient, without specific personal or family medical history, was referred from the pediatric department for bilateral papilledema. The patient had a best-corrected visual acuity of 20/20 (Logarithmic Measure of Angle of Resolution (LogMAR): 0) in both eyes. Fundus examination of both eyes revealed congested pseudopapilledema with a short, mobile, brownish band extending from the optic disc towards the vitreous cavity. Ocular ultrasound of both eyes showed a fine hyperechoic line pulling on the optic nerve head, and papillary optical coherence tomography (OCT) showed a papillary traction syndrome. The diagnosis of a posterior and bilateral form of persistent fetal vasculature with papillary traction was established.

"Strabismus in children" is not simple - bilateral persistent hyperplasia primary vitreous: a case report.

Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature; bilateral presentations are even rarer. We report a 6-year-old child with bilateral PHPV who visited our hospital for strabismus, without exhibiting leukocoria, microphthalmia, and systemic diseases. These unique characteristics distinguish our case from other cases of PHPV. It is crucial to increase awareness of congenital eye disease in children and the importance of performing fundus examination with the pupils dilated.

Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.

INTRODUCTION: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens. CASE PRESENTATION: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected. CONCLUSION: MPPH syndrome with PHPV can be diagnosed prenatally.

Multimodal imaging of morning glory syndrome with persistent hyperplastic primary vitreous.

Morning glory syndrome (MGS) and persistent hyperplastic primary vitreous (PHPV) are congenital abnormity, which may be related to the increased incidence of systemic abnormalities and retinal detachment，diagnosed by ultrasound, identified by CT, MRI, and with the confirmation of fundus examination.

Non-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature.

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. CASE PRESENTATION: 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. CONCLUSION: 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.

Retrospective Analysis of Surgical Outcomes on Axial Length Elongation in Eyes with Posterior and Combined Persistent Fetal Vasculature.

This study aims to investigate the outcomes and risk factors associated with poor vision (vision less than counting fingers, 2.0 logMAR, Snellen vision 20/2000) in patients with posterior or combined persistent fetal vasculature (PFV), with or without surgery. We retrospectively reviewed the medical records of patients who were diagnosed with PFV from January 2008 to April 2021. We included 51 eyes of 44 patients who presented with PFV, of which 38 eyes underwent surgical correction (pars plicata/plana vitrectomy, with or without lensectomy, and intraocular lens implantation) at the median age of 6.0 months (range: 0.7 to 82.0). The mean follow-up was 68.8 months ± 38.0 months. The axial length change in the eyes undergoing surgery was significantly higher than the eyes without surgery (p = 0.025). Initial anterior chamber collapse and retinal detachment were associated with poor vision (p = 0.006 and p = 0.002, respectively). In addition, 37% of eyes with posterior or combined PFV had vision better than counting fingers. Surgery for eyes with PFV could result in better eye growth. Visual outcomes remained poor and were associated with the level of macular abnormality. Initial anterior chamber collapse and retinal detachment at presentation were the risk factors for poor visual outcomes. Vitrectomy for selected PFV eyes is valuable and associated with a better cosmetic outcome (better eye growth).

Application of immersion B-scan ultrasonography in diagnosis of complex retinal detachment, persistent hyperplastic primary vitreous and intraocular tumors.

AIM: To evaluate the diagnostic value of panoramic immersion B-scan ultrasonography (Pano-immersion B-scan, PIB) in complex retinal detachment (RD), persistent hyperplastic primary vitreous (PHPV) and intraocular tumors. METHODS: The clinical data of 44 patients collected from May 2012 to December 2019 in Chinese PLA General Hospital was retrospectively studied. All of these patients underwent PIB of the eye, because it was difficult to diagnose by routine ocular fundus examination, conventional ultrasound or/and ultrasonic biomicroscope (UBM) due to opacity of refractive media, pupillary occlusion, large involvement or special location of the lesion. The imaging features of difficult cases in PIB were analyzed. The diagnosis accuracy rating of PIB were evaluated and contrasted with conventional ultrasound or UBM by the standard of intraoperative diagnosis or/and pathological results. RESULTS: According to intraoperative diagnosis or pathological results as gold standard, among the 44 cases, there were 19 cases missed diagnosis, misdiagnosed or difficult-to-diagnose by conventional ultrasound or UBM, including 4 cases of long-standing RD difficult to diagnose, 4 cases misdiagnosed, and 11 cases incompletely observed or miss diagnosed. The diagnostic accuracy rate of PIB and conventional ultrasound or UBM were 100% (44/44) and 56.82% (25/44), and the sensitivity of them were 100% and 56.82%. All the patients underwent PIB and were diagnosed as RD (15 cases), retinal and choroidal detachment (4 cases), subchoroidal hematocele (1 case), vitreous opacity and/or organic membrane formation (4 cases), PHPV (12 cases), iris and/or ciliary body tumors (3 cases), and choroidal tumors (6 cases). According to the intraoperative diagnosis or pathological results, the diagnostic coincidence rate of PIB was 100%, which was significantly higher than conventional ultrasound and UBM. CONCLUSION: PIB can help to accurately diagnose complex RD, PHPV, and intraocular masses with special location or/and excessive size. It has important diagnostic value for patients with equivocal findings at conventional ultrasound examination.

Progression of bilateral morning glory syndrome associated with unilateral persistent fetal vasculture: A case report of long term follow-up in an infant.

PURPOSE: To describe a case of Bilateral Morning Glory Syndrome (MGS) associated with Unilateral Persistent Fetal Vasculature (PFV) in a 3-day old neonate. OBSERVATIONS: A 3-day-old neonate was found bilateral retinal abnormalities due to neonatal eye screening. Dilated fundus exam showed bilateral optic disc dysplasia with the persistent hyaloid vessels in right eye at first. With the progress of the disease, optic disc was enlarged with central umbilication which with a similar anomalous radiating peripapillary vascular appearance, the persistent hyaloid vessels in vitreous cavity of right eye gradually disappear, a large amount of exudation can be seen in the posterior pole retina with macular movement in both eyes. Bilateral vitrectomy was performed in this case, then the condition of the neonate's both eyes is stable until 1 year old. CONCLUSIONS AND IMPORTANCE: This is a rare case that showing the development of MGS and PFV and the relationship between these two diseases. In addition, we completely observed the whole process of the change of the persistent hyaloid vessels in the vitreous cavity of a case of MGS associated with PFV.

Comparison study of clinical features between persistent hyperplastic primary vitreous and congenital fibrovascular pupillary membrane / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To analyze the similarities and differences of the clinical features between persistent hyperplastic primary vitreous(PHPV)and congenital fibrovascular pupillary membrane(CFPM).METHODS: Retrospectively analyze the ocular biometric parameters, clinical features and morphological changes in children with PHPV(PHPV group)and CFPM(CFPM group)who received surgery at the department of ophthalmology, Xijing Hospital from March 2006 to December 2021.RESULTS: The study included 56 cases(61 eyes)of PHPV and 24 cases(25 eyes)of CFPM. There were no differences on the gender and age of onset between PHPV and CFPM, and both of them were mainly unilaterally affected, with the ratio of 91% and 96%. Children with PHPV and cataract combined with other complications and ocular developmental abnormalities. CFPM was mainly presented different degrees of blockage and morphological abnormalities of pupillary area. In unilateral cases of PHPV and CFPM, the anterior chamber depth(ACD)of affected eyes was smaller than that of the fellow eyes, and in subgroups with age of operation ≤24mo, the axial length(AL)of affected eyes was smaller than that of the fellow eyes(P<0.05). The corneal diameter(CD)of the affected eyes in PHPV group was smaller and the intraocular pressure(IOP)was higher than those of the fellow eyes(all P<0.05); while there were no significant differences on CD and IOP between affected eyes and the fellow eyes in CFPM group(P>0.05). The ACD of affected eyes in PHPV group was significantly smaller than that of CFPM group(P<0.05). The fibrovascular membrane in PHPV group was located in the posterior part of the lens and vitreous cavity; while the fibrovascular membrane in CFPM group was located between the iris and the anterior capsule of the lens, rarely involving the lens.CONCLUSION: PHPV and CFPM had the similar clinical features, suggesting that they may belong to the different variants of persistent fetal vasculature(PFV). However, PHPV had a wider range of lesions and more complex conditions.

Prenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma.

INTRODUCTION: Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities characterized by the presence of a vascular membrane behind the lens. Retinoblastoma is a life-threatening intraocular malignancy that can cause blindness, eye loss, or even death. PHPV and retinoblastoma are extremely rare prenatal diseases. CASE PRESENTATION: Here, we present a case of fetal PHPV with retinoblastoma diagnosed using prenatal ultrasound. The unilateral lenses were hyperechoic, and irregular echogenic bands between the lenses and posterior eye walls were observed. In cases where the blood flow signal continues in the band-shaped hyperechoic area, PHPV with retinoblastoma should be suspected. CONCLUSION: PHPV with retinoblastoma can be prenatally diagnosed.

Case report: tuberous sclerosis and persistent hyperplastic primary vitreous.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in 1999. Otherwise, there is no literature around this potential association. We describe a case of an infant with TS and PHPV. CASE PRESENTATION: An 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment. CONCLUSIONS: This is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.

Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha 1 catalytic subunit of -casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic -abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in CSNK2A1, NM_001895.3:c.319C>T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Diagnostic accuracy of Quantitative Colour Doppler Flow imaging in distinguishing Persistent Fetal Vasculature from Retinal Detachment.

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.

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation.

Ambliopia severa na infância relacionada à persistência da vasculatura fetal / Severe childhood amblyopia associated to persistence of fetal vasculature

RESUMO A persistência do vítreo primário hiperplásico, atualmente referida como persistência da vasculatura fetal, é uma anomalia congênita que resulta da não regressão do vítreo vascular primário e do sistema da artéria hialoide durante a embriogênese. Trata-se de uma anomalia unilateral na maioria dos casos, esporádica e comumente não associada a nenhum outro achado sistêmico. Clinicamente, essa condição pode ser classificada em persistência anterior e em persistência posterior da vasculatura fetal. A condição anterior está relacionada ao sistema da artéria ciliar, enquanto a persistência da vasculatura posterior associa-se à artéria hialoide e pode apresentar anormalidades, com desfecho visual desfavorável. A detecção da persistência do vítreo primário hiperplásico é de suma importância, visto que é um diagnóstico diferencial para retinoblastoma. O relato de caso a seguir descreve o acompanhamento ambulatorial em um Serviço de Oftalmologia de uma criança do sexo masculino com persistência da vasculatura fetal unilateral e sem alterações sistêmicas.

ABSTRACT Hyperplastic primary vitreous persistence, currently referred to as fetal vasculature persistence, is a congenital anomaly that results from non-regression of the primary vascular vitreous and hyaloid artery system during embryogenesis. It is a unilateral anomaly in the vast majority of cases, sporadic and commonly not associated with any other systemic finding. Clinically, this condition can be classified into anterior and posterior persistence of fetal vasculature. The anterior condition is related to the ciliary artery system, while the persistence of the posterior vasculature is associated with the hyaloid artery, which may present abnormalities with an unfavorable visual outcome. Detecting persistent hyperplastic primary vitreous is of paramount importance, as it is a differential diagnosis for retinoblastoma. The following case report describes the outpatient follow-up at the ophthalmology service of the Federal University of Triângulo Mineiro (UFTM) of a male child with persistent unilateral fetal vasculature and no systemic changes.

Surgical treatment and current advances of persistent fetal vasculature syndrome / 中华眼底病杂志

Persistent fetal vasculature syndrome (PFVS) is a rare congenital vitreous dysplasia, which is classified as anterior, posterior and combined types according to the location of the vascular abnormalities. The clinical manifestations of PFVS are diverse, and early surgical intervention is very important. The main objective of surgical treatment is to remove the anterior and posterior traction between fibrovascular membranes and retina as well as lens, and to reconstruct clear visual axis. Surgical treatments include pupilloplasty, lensectomy with or without intraocular lens implantation and vitrectomy via limbal or scleral approach. For new technologies, the applications of ophthalmic viscosurgical device and femtosecond lasers have desirable results . In addition to focusing on improving the success rate of surgery, it is also necessary to systematically and comprehensively assess the overall preoperative condition and postoperative visual function of the patients. PFVS eyes have limited improvement in postoperative vision, which is related to the extent of lesion involvement and the occurrence of complications. Eyes with macular dysplasia and tractional retinal detachment, as well as elongated ciliary process, have a poor prognosis of vision after surgery. How to improve postoperative vision in the eye affecting the posterior segment of the eye with PFVS from the microscopic anatomical relationship between the fibrous vascular pedicle and the retina is worth further study. On the other hand, reducing surgical trauma and optimizing surgical procedures in order to improve postoperative visual acuity and reduce postoperative complications are also the key research directions of future PFVS treatments.

Pseudo-hyaloidal Stalk in Anterior Persistent Fetal Vasculature: A Report of Two Cases.

Persistent fetal vasculature (PFV) syndrome is characterized by abnormal regression of the fetal hyaloid system and may occur in various forms. In this report, two atypical cases associated with posterior capsular defect and ectopic lens material located along Cloquet's canal are discussed. Ultrasonography of these patients presenting with bilateral total cataracts revealed a hyaloidal stalk extending from the optic nerve head to the retrolental area. During lensectomy, it was observed that lens particles were moving anteriorly from the central mid-vitreous to the aspiration port and that the posterior capsule was developmentally defective. There was no pathological vascular remnant, rather the lens material partially filled Cloquet's canal through the opening in the posterior capsule and created a pseudo-stalk appearance on the preoperative ultrasonography. We aim to discuss possible mechanisms underlying these cases, which may help to improve our understanding of the PFV spectrum.

Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis.

Background: The failure of the embryonic hyaloid vascular system to regress naturally causes persistent hyperplastic primary vitreous (PHPV), a congenital eye disease. PHPVs molecular pathway, candidate genes, and drug targets are unknown. The current paper describes a comprehensive analysis using bioinformatics to identify the key genes and molecular pathways associated with PHPV, and to evaluate potential therapeutic agents for disease management. Methods: The genes associated with PHPV were identified using the pubmed2ensembl text mining platform. GeneCodis was employed to evaluate the Gene Ontology (GO) biological process terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Search Tool for the Retrieval of Interacting Genes (STRING) constructed a protein-protein interaction (PPI) network from the text mining genes (TMGs) in Cytoscape. The significant modules were clustered using Molecular Complex Detection (MCODE), and the GO and KEGG analysis for the hub genes were analyzed with the Database of Annotation, Visualization and Integrated Discovery (DAVID) tool. ClueGO, CluePedia, and ShinyGo were used to illustrate the functions and pathways of the clustered hub genes in a significant module. The Drug-Gene Interaction database (DGIdb) was used to evaluate drug-gene interactions of the hub genes to identify potential PHPV drug candidates. Results: A total of 50 genes associated with PHPV were identified. Overall, 35 enriched GO terms and 15 KEGG pathways were discovered by the gene functional enrichment analysis. Two gene modules were obtained from the PPI network constructed with 31 nodes with 42 edges using MCODE. We selected 14 hub genes as core candidate genes: TP53, VEGFA, SMAD2, CDKN2A, FOXC, FZD4, LRP5, KDR, FZD5, PAX6, MYCN, NDP, PITX2, and PAX2, primarily associated with camera-type eye morphogenesis, pancreatic cancer, the apoptotic process involved in morphogenesis, and the VEGF receptor signaling pathway. We discovered that 26 Food and Drug Administration (FDA)-approved drugs could target 7 of the 14 hub genes. Conclusions: In conclusion, the results revealed a total of 14 potential genes, 4 major pathways, 7 drug gene targets, and 26 candidate drugs that could provide the basis of novel targeted therapies for targeted treatment and management of PHPV.

Surgical outcomes of cataract surgery in anterior and combined persistent fetal vasculature using a novel surgical technique: a single center, prospective study.

PURPOSE: To study the complications and surgical outcomes of cataract surgery in patients of persistent fetal vasculature (PFV) with cataract. METHODS: In this prospective study, phacoaspiration with/without intraocular lens implantation (IOL) was done in 20 children (mean age 14.2 months) with unilateral cataract with anterior (n = 6) or combined (n = 14) PFV. The rentrolental vascularized membrane was cauterized and dissected circumferentially, followed by cauterization and resection of the PFV stalk. The outcome measures included fixation preference using the CSM (central, steady, maintained) method and intraoperative and postoperative complications in an 18-month follow-up. The difference in outcomes of anterior and combined PFV, as well as aphakic and pseudophakic eyes, was studied. RESULTS: CSM fixation was seen in 16 patients after 18 months. The intraocular lens was implanted in 16 eyes and 4 eyes with combined PFV were left aphakic. None of our patients had intraoperative bleeding. Visual axis obscuration was the major complication seen, requiring membranectomy in 8 children. Pupilloplasty was required with membranectomy in one eye. None of our patients developed glaucoma or retinal detachment. CONCLUSION: Timely surgical intervention and aggressive amblyopia therapy led to good visual results in our study. Poor prognosis was seen in combined PFV, aphakia, and microphthalmia.

Unilateral Leukocoria in an Infant.

A nine-day-old male infant presents with his mother to the pediatric clinic with a concern of a white spot in his right eye. There was no history of antenatal or perinatal complications and the mother's serology was negative. Physical examination was remarkable only for leukocoria in the right eye. He was evaluated to have a Mittendorf dot. This is a benign clinical finding. Pupillary reflex check is an important part of a physical examination which can recognise pathological conditions such as cataract, retinoblastoma, metabolic errors with ocular manifestations and lead to early treatment before the child loses vision.