Persistent Hyperplastic Primary Vitreous Research Articles

Secondary glaucoma caused by a special type of persistent fetal vasculature.

To investigate the clinical features and surgical outcomes in infants with glaucoma secondary to a special anterior-anterior type of persistent fetal vasculature (AAPFV). This study retrospectively reviewed the medical records of infants who underwent of the synechialysis, pupilloplasty, with or without lensectomy and limbal vitrectomy due to AAPFV and with at least 6months of postoperative follow-up. Eleven patients were included. The median age at surgery was 4.0months (interquartile range: 7months). The mean follow-up was 21.0 ± 11.3months. All patients achieved a normal anterior chamber, improved pupillary configuration, and normal intraocular pressure (IOP), except one that developed phthisis bulbi at the last visit. A total of 81.8% (9/11) eyes exhibited improved corneal transparency. Histopathologic findings of four pupillary membranous specimens under light microscopy showed similar components compared with PFV. Two eyes developed postoperative complications, including retinal detachment and hyphema, requiring additional surgeries. Postoperative visual acuity changed from no light perception to light perception in 6/9 patients. AAPFV is a special type of PFV with a potential for secondary glaucoma. Surgery treatment may offer better vision with improved cosmetic outcomes and a better controlled IOP. The study was approved by the local institutional review board (IRB) (Approval No. XHEC-D-2021-043, Ethical Committee of Xin Hua Hospital Affiliated to Shanghai Jiao Tong University, Shanghai, China).

Long-Term Follow-Up of Recurrent Spontaneous Hyphema Caused by Ruptured Persistent Fetal Vasculature.

Long-Term Follow-Up of Recurrent Spontaneous Hyphema Caused by Ruptured Persistent Fetal Vasculature.

Ocular development in children with unilateral congenital cataract and persistent fetal vasculature.

To investigate the ocular development of patients who had unilateral congenital cataract (CC) combined with persistent fetal vasculature (PFV). This cross-sectional, observational study included patients who had unilateral CC and PFV and those with isolated unilateral CC. Axial length (AL), keratometry, anterior chamber depth (ACD), lens thickness, and vitreous length were obtained. The ocular biometric parameters of the affected eyes of patients with CC and PFV were compared with the fellow eyes and with the affected eyes of patients with isolated CC. A total of 110 patients were included and divided into 4 groups: group 1 (18 patients with CC and PFV, <24mo), group 2 (22 patients with CC and PFV, ≥24mo), group 3 (35 patients with CC, <24mo), and group 4 (35 patients with CC, ≥24mo). The ALs of the affected eyes were shorter than those of the fellow eyes in group 1 (20.02±1.06 vs 20.66±0.63 mm, P=0.025). While the ALs of the affected eyes were longer than those of the fellow eyes in group 2 (23.18±2.00 vs 22.31±1.06 mm, P=0.044) and group 4 (22.64±1.80 vs 22.02±1.01 mm, P=0.033). The keratometries of the affected eyes were steeper than those of the fellow eyes in group 2 (44.78±1.66 vs 43.83±1.38 D, P=0.041) and group 4 (43.76±1.91 vs 43.34±1.46 D, P=0.043). No difference of ACDs between two eyes was found in all groups (all P>0.05). Compared with the fellow eyes, the ALs of the eyes with unilateral CC and PFV are shorter in patients younger than 24mo and longer in those older than 24mo; the keratometries of the eyes with unilateral CC and PFV are steeper in patients older than 24mo and similar with those younger than 24mo. These findings provide further understanding of ocular development in patients with both CC and PFV.

Accidentally diagnosed ocular abnormalities identified during close screening for retinopathy of prematurity.

To report the variety of ocular findings which have been identified serendipitously during the screening for retinopathy of prematurity (ROP) in a tertiary referral center during seven-year period. The charts of 1568 preterm infants who screened for ROP were reviewed retrospectively. Any ocular lesion except for ROP were noted. All infants had undergone routine ocular examination of the external eye, pupillary light reflex, anterior and posterior segment. Wide-angle digital retinal image acquisition system for any vitreoretinal pathology requiring a close follow-up had been utilized. Abnormal ocular findings other than ROP were diagnosed in 296 infants (19.2%). Tunica vasculosa lentis was the most common finding (25%) followed by vitreous or retinal hemorrhages (17.2%) and retinal white lesions (16.6%). Retina was the most frequently involved anatomic site. Other frequent ocular findings included optic disc cupping, congenital cataract, optic nerve hypoplasia, choroidal nevus, persistent fetal vasculature, lid hemangioma, and tilted disc. However, life-threatening pathologies such as lipemia retinalis and even retinoblastoma were also diagnosed. A duly ophthalmologic examination is mandatory in premature infants for ROP screening. During such examinations, ophthalmologists must be aware of coexisting ocular findings; which could be sight-threatening or even life-threatening.

Imaging Findings of Pediatric Orbital Masses and Tumor Mimics.

Pediatric orbital masses are not common but encompass a wide spectrum of benign and malignant entities that range from developmental anomalies to primary and secondary orbital malignancies and metastatic disease. Certain orbital tumors are unique to pediatric patients, such as retinoblastoma and neuroblastoma. Clinical symptoms and signs are often insufficient to differentiate between orbital lesions, and imaging is essential for narrowing the diagnostic considerations and determining the most appropriate management strategy. MRI is the primary imaging modality for evaluating orbital masses in children, with US and CT playing complementary roles. The authors review a spectrum of masses and tumor mimics that affect the pediatric globe and orbit. The shared and differentiating characteristics of pediatric orbital lesions are reviewed. Emphasis is placed on utilizing an orbital compartment-based approach to narrow the differential diagnosis. By using this organizational scheme, the authors describe intraocular processes (retinoblastoma, persistent fetal vasculature, and Coats disease), intraconal lesions (lymphatic malformation, schwannoma, optic nerve sheath meningioma, and optic pathway glioma), extraconal lesions (infantile hemangioma, rhabdomyosarcoma, idiopathic orbital inflammation, lymphoma, venous varix, plexiform neurofibroma, and pleomorphic adenoma of the lacrimal gland), and lesions involving the bony orbit (dermoid cyst, metastatic neuroblastoma, and Langerhans cell histiocytosis). The authors describe the basic management of each entity. Orbital infections and traumatic lesions are beyond the scope of this article. ©RSNA, 2022.

Clinical and Echographic Features of Morning Glory Disc Anomaly in Children: A Retrospective Study of 249 Chinese Patients.

PurposeTo report the clinical and echographic features, the prevalence of retinal detachment (RD), and associated visual acuity in a cohort of pediatric patients with morning glory disc anomaly (MGDA).MethodsThis was a retrospective review of 249 pediatric patients with MGDA (271 eyes) seen at the Dept. of Ophthalmology, Xinhua Hospital. Their medical records were reviewed for demographic data and ocular and systemic findings. The maximal depth and width of the cavity were measured using standardized echographic images. The ratios of cavitary depth to axial length, cavitary depth to maximal cavitary width, and the product of cavitary depth and width were calculated and used to indicate the relative size of the excavation. The clinical and echographic findings were correlated with visual acuity and the occurrence of RD of the patient.ResultsThe relative size of the excavation and the presence of RD were positively associated with increased risk of poor vision (p < 0.05). The presence of persistent fetal vasculature was not associated with the risk of RD and poor vision. The ratio of cavitary depth to axial length more than or equal to 0.25 conferred an increased risk of RD (OR, 2.101; 95% CI, 1.469–3.003).ConclusionsClinical and echographic features of MGDA may be used in predicting the risk of RD. Measuring the relative size of excavation via echography may guide the follow-ups and assist in the early diagnosis of RD.

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.

A case of anterior persistent hyperplastic primary vitreous associated with morning glory disc anomaly and retinopathy of prematurity like retinopathy in a term-born child

BackgroundAssociation of morning glory disc anomaly (MGDA) with persistent hyperplastic primary vitreous (PHPV) has been reported earlier. Retinopathy of prematurity (ROP) like retinopathy in preterm babies with optic disc anomalies has also been published. Our case is unique in terms of presence MGDA, PHPV, unilateral ROP like retinopathy in a term infant with normal birth weight.Case presentationA 5-month-old girl, born at term with a birth weight of 3750 g, presented with anterior PHPV, MGDA and ROP like retinopathy. In order to prevent retinal detachment, she received 360 degree barrage laser photocoagulation at the edge of the optic disc excavation of the left eye. In the follow-up a month later, laser scars were found in her left fundus without other complications.ConclusionPHPV and MGDA with ROP like retinopathy in term and normal weight baby is rare. The peripheral avascular retinal area, caused by the dragging of the defected optic disc, might have been more vulnerable to the oxygen change after birth which resulted in ROP like retinopathy. High sensitivity to oxygen results in a series of changes such as upregulation of VEGF and IGF-1 may cause ROP-like retinopathy.

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion

Deletion of the 26q position on chromosome 10 results in a syndrome with well-documented systemic phenotypes. There are few reports of ophthalmic manifestations in terminal 10q26 deletion. We report a 4-week-old boy with terminal 10q26 deletion who had extensive ophthalmic abnormalities, including bilateral anterior segment dysgenesis and bilateral persistent fetal vasculature, with microphthalmia, microcornea, iris corectopia, congenital cataracts, and posterior embryotoxon.

Term Newborn with Corneal Opacity.

Term Newborn with Corneal Opacity.

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.

Persistent fetal vasculature with microphakia, lacrimal drainage disorder, and congenital ptosis

Persistent fetal vasculature (PFV) is a rare congenital ocular anomaly, characterized by failure of regression of embryonal hyaloid vasculature and is known to cause a broad range of anomalies. We report a 3-month old female infant with PFV, congenital nasolacrimal duct obstruction, and congenital ptosis in the left eye. At the time of lens aspiration, microphakia was seen after dilatation with a Malyugin ring. The child underwent uneventful lens aspiration, primary posterior capsulotomy, and anterior vitrectomy. All these features point towards role of abnormal embryological development in PFV. The meticulous surgical technique is essential to prevent intraoperative and postoperative complications in these patients.

Persistent Fetal Vasculature Imaged by Multi-modality Ultrasound.

Persistent Fetal Vasculature Imaged by Multi-modality Ultrasound.

Tree-Ring Sign: Progression of Retinal Detachment Secondary to Persistent Fetal Vasculature

A baby boy was diagnosed with right persistent fetal vasculature stalk tethering to cataractous lens (Fig A). He developed glaucoma, and the resulting eye growth caused traction on the stalk and progressive tractional retinal detachment (Fig B). He was treated with goniotomy followed by lensectomy, pars plana vitrectomy, and amputation of the stalk (Fig C). The tree-ring pattern of pigmentation documenting the stages of retinal detachment was easily visible postoperatively (Fig D). (Magnified version of Fig A-D is available online at www.aaojournal.org).

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.

To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation. This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient. Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%). This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [J Pediatr Ophthalmol Strabismus. 2021;58(3):161-167.].

Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study

PurposeTo investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese.MethodsInpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts.ResultsA total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan’s syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat’s disease, and neurofibromatosis.ConclusionsWe described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.

Optic Nerve Aplasia.

Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Outcomes and surgical management of persistent fetal vasculature

ObjectiveTo analyse outcomes in different forms of persistent fetal vasculature (PFV).Methods and analysisRetrospective cohort study at a university-based practice of children presenting with PFV between 2011 and 2020. Exclusion criteria...

Falsely high rebound tonometry

Rebound tonometry (RBT) can be used to measure intraocular pressure (IOP) in children unable to tolerate measurement with applanation tonometry (AT) while awake. RBT readings are often 2-3mm Hg higher than AT. We have experienced children with a repeatedly higher difference between RBT and AT measurements (≥6mm Hg). The purpose of this study was to identify demographic and ocular characteristics that contribute to this artifactuous discrepancy. The medical records of pediatric patients with IOP measured by RBT followed by AT within 6months without intervening surgery or change in medical management were retrospectively reviewed to identify potential predictors of greater difference between RBT and AT readings. A total of 123 eyes of 65 patients were included. In patients with normal IOP (≤24mm Hg), 18.5% had a ≥6mm Hg difference between RBT and AT, with RBT being higher. Risk factors for this included presence of persistent fetal vasculature (PFV), increased corneal diameter, and higher initial RBT value (>20). In patients with elevated IOP (>24mm Hg), 77% had ≥6mm Hg difference, with larger corneal diameter being the sole predictor. Eyes were less likely to have significant RBT-AT difference if there was corneal opacity or iris abnormalities in eyes with elevated IOP (>24mm Hg). In some children, RBT readings are≥6mm Hg higher than AT readings. Caution should be taken when interpreting RBT values in patients with PFV, increased corneal diameter, and higher initial RBT values.

Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

PurposeAnalysis of circulating tumor DNA (ctDNA) in the plasma of patients with retinoblastoma and simulating lesions.DesignRetrospective cross-sectional study of the association of plasma ctDNA from retinoblastoma and simulating lesions with disease course.ParticipantsFifty-eight Memorial Sloan Kettering Cancer Center patients with retinoblastoma comprising 68 plasma ctDNA samples and 5 with retinoblastoma-simulating lesions.MethodsThe ctDNA analyzed with hybridization capture and next-generation sequencing in blood (plasma) of patients who had retinoblastoma or simulating lesions were evaluated for association with clinical course of the disease.Main Outcome MeasuresPresence or absence of molecular aberrations in the RB1 gene and correlations with clinical features.ResultsRB1 cell-free DNA (cfDNA) was detected in 16 of 19 patients with newly diagnosed, untreated intraocular retinoblastoma and in 3 of 3 patients with newly diagnosed, untreated metastatic disease. It was also present in 3 patients with recurrent intraocular disease before therapy, but was not present in patients with recurrent disease who received intra-arterial chemotherapy, nor in 21 patients who had undergone enucleation for unilateral disease. In 1 patient who had delayed treatment (insurance reasons) and showed rapid growth of the intraocular tumor, the variant allele frequency increased in 1 month from 0.34% to 2.48%. No RB1 mutations were detected in the cfDNA from plasma of patients with simulating lesions (3 with Coats disease and 1 with persistent fetal vasculature [PFV]). In 2 patients, we identified 2 independent RB1 mutations in plasma.ConclusionsMutations in RB1 were found in the cfDNA from blood of patients with newly diagnosed, untreated retinoblastoma and in patients who showed disease recurrence in the eye after prior treatment, but not in unilateral retinoblastoma after enucleation Levels of ctDNA increase in patients with progressive disease who did not receive any treatment. High plasma cfDNA levels were detected in patients with newly diagnosed metastatic disease, and these levels decreased after systemic chemotherapy was administered. Further validation is needed for measuring the somatic alterations in cfDNA from blood in retinoblastoma that could provide a promising method of monitoring patients in the future.