Persistent Hyperplastic Primary Vitreous Research Articles

The analysis of posterior segment findings in term and premature infants using RetCam images.

To analyze posterior segment findings in term and premature infants using the RetCam image database. RetCam images taken of infants born between January 2012 and December 2015 were reviewed. Group 1 included infants with posterior segment findings other than retinopathy of prematurity (ROP). Group 2 included infants with mild-to-severe ROP. The baseline characteristics, anterior segment findings, and percentage of infants who received treatment were compared among the 2 groups. In total, 331 out of 3440 infants (9.6%) were included. The major diagnoses in group 1 (n=75) were retinal hemorrhages in 26, optic nerve pathologies in 14, findings associated with a metabolic disease in 6, ocular tumors in 5, persistent hyperplastic primary vitreous in 4, and familial exudative vitreoretinopathy in 4 cases. The mean birth weight (g) (2481.9±700.5 in group 1 vs 1090.5±330.9 in group 2), gestational age (weeks) (35.9±3.4 in group 1 vs 28.2±2.4 in group 2), and postmenstrual age at initial examination (35.9±3.4 in group 1 vs 28.2±2.4 in group 2) were significantly different among the 2 groups (p<0.001). Thirteen out of 75 cases in group 1 and 124 out of 256 ROP cases received therapy (p<0.001). Anterior segment pathologies were found in 13.3% of group 1 versus 7.8% of group 2 infants (p=0.216). A considerable number of infants suffered from posterior segment disorders other than ROP. The majority of these infants were term babies. Routine fundus screening may be recommended in all newborns to diagnose all posterior segment pathologies other than ROP.

Measurements, reoperation rates, and outcomes in persistent fetal vasculature with elongated ciliary processes

Measurements, reoperation rates, and outcomes in persistent fetal vasculature with elongated ciliary processes

LONG-TERM RESULTS OF TOTAL RETINECTOMY IN CASES WITH ADVANCED PROLIFERATIVE VITREORETINOPATHY.

To evaluate the long-term results of total retinectomy in patients with rhegmatogenous retinal detachment and severe proliferative vitreoretinopathy. Seven eyes of 7 patients had pars plana vitrectomy, with or without pars plana lensectomy, and total retinectomy, with or without silicone oil tamponade, for the management of rhegmatogenous retinal detachment and proliferative vitreoretinopathy (Grade D1-3) after previous complex vitreoretinal surgery procedures. Visual acuity, intraocular pressure, details of previous operations, and development of complications were evaluated retrospectively. Five eyes had a history of penetrating eye trauma, one had persistent fetal vasculature, and one had Coats disease. Patients were all male, with a mean age of 15 ± 11 years (range, 2-31). The mean follow-up was 49.7 ± 50.2 months (range, 12-132). In 3 eyes (42%), enucleation and evisceration were avoided over a mean 100 ± 30.2 month follow-up. All 7 eyes had corneal opacity and band keratopathy after a mean 4.4 ± 3.2 months. Four eyes had phthisis bulbi after a mean 7 ± 4.2 months. No patients developed rubeosis iridis related to the total retinectomy. Total retinectomy may be a last option to preserve the eyeball in cases with massive fibrosis and rhegmatogenous retinal detachment, despite previous complex surgical treatments.

The Paediatric Cataract Register (PECARE): an overview of operated childhood cataract in Sweden and Denmark.

To report basic epidemiological data concerning surgically treated childhood cataract in Sweden and Denmark. Data were derived from the Paediatric Cataract Register (PECARE), a binational, web-based surgical register representing Sweden and Denmark. All children operated before 8years of age between 1 January 2007 and 31 December 2013 were included. Age-specific prevalence per 100000 population was calculated. A total 574 operations in 213 boys (51.7%) and 199 girls (48.3%), altogether 412 children, were registered, the vast majority (n=395/412; 95.9%) being individuals with congenital/infantile cataract. Of these 412, a total of 294 (147 boys and 147 girls) were Swedish and 118 (66 boys and 52 girls) were Danish. The age-specific prevalence of operated cataract in Sweden was 31/100 000 and in Denmark 28/100 000. In 454 of 574 eyes (79.1%), the cataract was dense. Altogether, 266 of 574 (46.3%) were operated during the first year of life, 193 during the first 12weeks representing 33.6% of all operations. A primary intraocular lens (IOL) implantation was done in altogether 411 of 574 eyes (71,6%). In total, 210 unilateral cataract operations (210/574; 36.6%) were performed. Persistent fetal vasculature (PFV) was present in 64 of 193 (33.1%) of those with a congenital unilateral cataract. In 84 individuals (84/395; 21.3%) with congenital or infantile cataract, a coexisting disorder was found. The age-specific binational prevalence of operated congenital/infantile cataract in Sweden and Denmark is 30/100000. About half of the operations are performed within the first year of life, one-third within the first 3months. In our study population, a primary IOL was implanted in the majority of cases.

Bilateral persistent fetal vasculature: mimicker of retinoblastoma

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...

Outcome of various Hydrophobic Acrylic Intraocular Lens Implantations in Children with Congenital Cataract.

To evaluate performance of different intraocular lenses (IOLs) after cataract surgery in children aged less than 2 years with regards to rates of visual axis opacification (VAO). This was a retrospective chart review of children <2 years of age undergoing cataract surgery with primary posterior capsulotomy, anterior vitrectomy, and IOL over a period of 5 years with minimum follow-up of 1 year at a tertiary care institute. Children with microphthalmos, persistent fetal vasculature, traumatic cataract, aphakia, secondary IOLs, or any other coexisting ocular disease were excluded. A total of 257 eyes of 159 children were included in the study. The mean age at the time of surgery was 11.63 ± 7.916 months (range 6-23 months). A total of 29 eyes of 16 children underwent phacoaspiration with implantation of SA60 AT (AcrySof, Alcon, Fort Worth, TX); 75 eyes of 45 children received Hoya IOL (Hoya-PS AF-1 Series, Model PC-60AD, Hoya, Japan), 70 eyes of 46 patients received Sensar (Abbott Medical Optics Inc., Santa Ana, CA, USA), and 83 eyes of 52 children received MA60AC (AcrySof). At mean follow-up of 18.31 ± 15.04 months, 22.46% of the patients required resurgery for visual axis obscuration. By multiple regression analysis, the rate of visual axis obscuration was affected by the rate of perioperative complications (p = 0.001) and not affected by age (p = 0.98), type of IOL (p = 0.104), or site of IOL implantation (p = 0.603). Our findings suggest comparable rates of VAO for children less than 2 years of age receiving different types of hydrophobic acrylic IOLs.

Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous.

To evaluate the surgical treatment and visual outcomes of eyes with cataract and persistent hyperplastic primary vitreous (PHPV). This retrospective study included patients with cataract and PHPV treated with various strategies. Anterior PHPV was treated using phacoemulsification with underwater electric coagulation on posterior capsule neovascularization, posterior capsulotomy, anterior vitrectomy, and intraocular lens (IOL) implantation. Posterior PHPV was treated with lensectomy, posterior vitrectomy, retinal photocoagulation, and IOL implantation or silicone oil tamponade. Visual acuity (VA), pattern visual evoked potential (P-VEP), anatomic recovery, postoperative complications, and amblyopia outcome were examined. Subjects were followed-up for 3-48mo after surgery. Of the 30 patients (33 eyes) with congenital cataract and PHPV included (average age, 39.30±35.47mo), 9 eyes had anterior PHPV and 24 had posterior PHPV. Thirty-two eyes were surgically treated. Eyes with anterior PHPV received an IOL during one-stage (6 eyes) and two-stage (3 eyes) implantation. Postoperative complications included retinal detachment (1 eye) and recurrent anterior chamber hemorrhage (1 eye). In eyes with posterior PHPV, 6 and 11 eyes received IOLs in one- and two-stage procedures, respectively. Silicone oil was retained in 2 eyes, and IOLs were not implanted in 4 eyes. VA significantly improved in 25 eyes following operations and 3-48mo of amblyopia treatment. P-VEP P100 was improved following surgery in both PHPV types. Our surgical strategies are appropriate and effective for anterior and posterior PHPV. Early surgical intervention and amblyopia therapy result in positive treatment outcomes.

Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma

A previously diagnosed child of persistent hyperplastic primary vitreous (PHPV) with painless blind eye remained clinically silent for about 3years follow-up. The child suddenly presented as a case of orbital cellulitis and panopthalmitis with meningitis. No definite mass lesion was detected on ultrasonography, magnetic resonance imaging (MRI) and positron emission tomography (PET) scan. Histopathology of the enucleated eye revealed intra-ocular medulloepithelioma as the culprit of sterile panophthalmitis and orbital inflammation.

A case report on a rare posterior type of persistent fetal vasculature

Persistent fetal vasculature (PFV) is a rare congenital developmental malformation of the eye. It is caused by the incomplete regression of the fetal hyaloid vasculature. It is a rare and sporadic disease with an overall prevalence of 0.064%. Persistent fetal vasculature, previously referred to as persistent hyperplastic primary vitreous (PHPV), is usually characterized by microphthalmia, a shallow anterior chamber, elongated ciliary processes, a posterior subcapsular cataract and a fibrovascular stalk that extends from the optic disc to the lens.This case presented with a history of poor vision on the right eye. On ophthalmologic examination, no light perception was noted in the affected eye. Slit-lamp findings for both eyes were unremarkable. There was no note of microphthalmia, shallow anterior chamber nor was there a subcapsular cataract. On dilated funduscopy of the affected eye, a fibrovascular stalk was seen emanating from the optic nerve. This was further documented with ocular ultrasound. Based on the clinical findings, a diagnosis of persistent fetal vasculature, posterior type, was made. Since the affected eye had no visual potential, a conservative mode of management was instituted. Persistent fetal vasculature is a rare and sporadic disease, which usually presents with microphthalmos, microcornea and leukocoria. Isolated posterior forms of PFV only accounts for 11% of persistent fetal vasculature cases in the literature.This documented case of a solely posterior type of persistent fetal vasculature, could somehow contribute to the small amount of information on this diseases entity. This, in turn, would eventually enable us to identify and formulate a more successful management strategy

Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study.

AimTo study the incidence and risk factors of glaucoma occurring within 1 year following pediatric cataract surgery in Egyptian children.Materials and methodsThis is a prospective nonrandomized study conducted at Aburich Children’s Hospital, over a period of 1 year on a cohort of Egyptian patients with congenital and infantile cataract. One hundred and fifty eyes of 88 patients were enrolled in this study. All the patients underwent anterior approach removal of lens matter, whereas primary intraocular lens (IOL) implantation was carried at the age of 1 and 2 years for unilateral and bilateral cases respectively. Intraocular pressure (IOP) was measured at 1 week, 1 month, 3 months, 6 months, 9 months, and 1 year. For those who developed glaucoma, time of diagnosis and associated risk factors were reported.ResultsThe incidence of glaucoma was 11.33% (17 of 150 eyes), while incidence of glaucoma suspect was 0.67% (1 of 150 eyes) in the first year following cataract surgery. The majority of the cases (66.7%) were discovered in the first 3 months postcataract surgery. Age at time of cataract surgery, the state of aphakia/pseudophakia, persistent fetal vasculature (PFV), and microphthalmia were not found to be significant predictors of early-onset glaucoma in our study.ConclusionAphakic glaucoma continues to be a devastating condition with high incidence during first year following cataract surgery.Clinical significanceRegular follow-up should start as early as possible following cataract surgery. Further prospective studies with larger study population are required.How to cite this article: Gawdat GI, Youssef MM, Bahgat NM, Elfayoumi DM, Eddin MAS. Incidence and Risk Factors of Early-onset Glaucoma following Pediatric Cataract Surgery in Egyptian Children: One-year Study. J Curr Glaucoma Pract 2017;11(3):80-85.

Aqueous misdirection syndrome in persistent fetal vasculature (PFV)

We report a case of a 5-year-old girl with persistent fetal vasculature who presented with unilateral acute angle closure caused by aqueous misdirection syndrome that was apparently associated with regression of cycloplegia. Initial treatment with topical steroids, anti-glaucomatous drops, and atropine showed insufficient control of the intraocular pressure (IOP). Surgical treatment with lensectomy and vitrectomy resulted in satisfactory IOP control and no complications at the 6-month follow-up.

Acquired and Congenital Abnormalities of the Pediatric Globe and Optic Nerve

Abnormalities of the pediatric globe and optic nerve present with different clinical features than adults. While many of these lesions are benign, most have a significant impact on vision, and therefore, the radiologist can play a key role in patient care. This article will review the radiologic features of retinoblastoma, the most common pediatric orbital tumor, as well as other congenital abnormalities such as persistent hyperplastic primary vitreous, Coats disease, and retinopathy of prematurity. Abnormalities of globe development, such as coloboma and vascular lesions, will also be discussed, as these should prompt imaging of the entire neuroaxis due to association with systemic syndromes. Tumors of the optic nerve can also unmask an underlying syndrome, the most common being an optic nerve glioma occurring in the setting of neurofibromatosis type I.

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

BackgroundMicrotubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α‐ or β‐tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly.MethodsThis is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup. We include studies of mutant function in Escherichia coli and HeLa cells.ResultsThe patient was found to have a novel de novo mutation in kinesin family member 2A (KIF2A). This mutation results in a substitution of isoleucine at a highly conserved threonine residue within the ATP‐binding domain. The KIF2A p.Thr320Ile mutant protein exhibited abnormal solubility, and KIF2A p.Thr320Ile overexpression in cultured cells led to the formation of aberrant microtubule networks.ConclusionFindings support the pathogenic link between KIF2A mutation and lissencephaly, and expand the range of presentation to include infantile spasms and congenital anomalies.

Mistakes in the diagnosis of children intraocular tumors

SummaryThe first mistake is to consider normal a unilateral strabismus or a leucocoria in a baby or a child and don't performed a dilated funduscopy. Retinoblastoma is the first ocular tumor in childhood and often late diagnosed because professionals (pediatrician, GPs, or ophthalmologists) didn't believe parents that notice a white reflect in their kid's pupil. Clinically, on dilated fundus, one or more white tumors can be associated with exudative retinal detachment or subretinal or vitreal seedings. The disease can be unilateral or bilateral. Several forms can be more difficult to diagnosed (infiltrative retinoblastoma, inflammatory cellulitis associated with advanced retinoblastoma, neovascular glaucoma with buphtalmia associated with advanced retinoblastoma. The more frequent disorder that can stimulate retinoblastoma is coats disease especially in advanced forms, persistent hyperplastic primary vitreous, and other rare tumors (medulloepitheloima, leiomyoma or melanoma). The proper diagnosis can be done in referral centers with team trained to deal with these diseases and sometime with the help of US echography or MRI of the eye. In case of suspicion of ocular tumor, the child must be referred in emergency in a specialized center.

Parents’ Narratives in an Online PHPV Forum: Toward a Typology of Caregiver Illness Narratives

The authors analyzed messages from an online support group for parents of children with Persistent Hyperplastic Primary Vitreous. This eye disorder, while not life-threatening, affects children’s eyesight and can impinge on the lives of parents and caretakers. The literature review examines Frank’s typology of illness narratives, prompting the question of whether Frank’s work is applicable to the narrative accounts of people who do not experience illness firsthand. Analysis of support group discourse not only confirms prior studies of illness narratives but also suggests that current typologies do not fully address the accounts of those who witness and are affected by the illness of another.

Clinical manifestations and pathological characteristics of retrolental membranes secondary to persistent hyperplastic primary vitreous

Background Persistent hyperplastic primary vitreous (PHPV) is a congenital eye disease of children, because its clinical manifestations are nonspecific, it is easy to be misdiagnosed as congenital cataract and the prognosis is poor.There has been more researches on PHPV clinical characteristics than its histopathological feature and immunochemistry. Objective This study was to investigate the clinical characteristics of PHPV and the pathological characteristics of retrolental membranes secondary to PHPV. Methods The clinical data of 6 PHPV eyes from 6 patients during May 2005 to December 2014 were retrospectively analyzed.All the PHPV eyes received a combinating procedure of cataract extraction and anterior vitrectomy.The retrolental membranes were collected during surgery for the histopathological examination by hematoxylin & eosin staining and periodic acid-Schiff (PAS) staining.Immunochemistry was used to detect the expression of Vimentin, smooth muscle actin (SMA), S-100, glial fibrillary acidic protein (GFAP), neuron specific enolase (NSE), epithelial membrane antigen (EMA), CD34 and proliferating cell nuclear antigen (PCNA) in the retrolental membranes. Results Monocular PHPV was found in 6 cases since born, with the main clinical manifestation of similar to congenital cataract.The ocular axial was shorter in 5 PHPV eyes than that of the contralateral eye by A-sonography, and 1 eye accompanied by eye nystagmus, strabismus and small cornea.The retrolental membranes were seen during the surgery in all cases, and the white band through the vitreous in 2 eyes.Pathological examination showed that the retrolental membrane was mainly composed of loose or myxoid connective tissue fibers, the capillaries and small veins.PAS positive tissue, residual transparent artery and differentiated adipocytes were exhibited in some specimens.Immunohistochemistry indicated that spindle-shape cells in the retrolental membranes presented the characteristics of mesenchymal cells, and some cells appeared the myofibroblast characteristics with the low proliferation activity.The development of the lens and the ciliary body was abnormal because of the stretching of retrolental membranes into the lens capsule in 1 PHPV eye.The follow-up was performed for 6-9 years in 4 eyes, with the best corrected visual acuity (BCVA) for 0.06, light perception, 0.05 and 0.07 respectively.The intraocular pressure was normal in all the eyes. Conclusions PHPV is usually misdiagnosed as congenital cataract and shows a poor postoperative BCVA.PHPV occurs mainly due to an incomplete regression of the embryonic vitreous and hyaloid vasculature and eventual abnormality of lens. Key words: Child; Eye abnormalities/etiology; Eye diseases/congenital; Hyperplasia; Vitreous body/abnormalities; Retrolental membranes; Persistent hyperplasic primary vitreous/pathology

Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2.

PurposeTo describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile cataract in the first 2 years of life.Patients and methodsObservational population-based cohort study with case identification through active surveillance and standardised data collection via a national clinical network, the British Isles Congenital Cataract Interest Group (BCCIG).ResultsThe IoLunder2 cohort comprises 246 children undergoing surgery for bilateral and unilateral congenital and infantile cataract in the first 2 years of life. A total of 58/246 (24%) children had PFV (%): overall, 46/95 (46%) with unilateral cataract, and 12/141 (8%) with bilateral disease. Anterior segment vascular remnants were more common in bilateral than unilateral disease (75 vs 11%, P=0.01). At 1 year after surgery, 20% of children with bilateral PFV and 24% with unilateral had achieved normal vision for age within the operated eye. The prevalence of post-operative glaucoma was 9% (of children with bilateral disease) and 4% (unilateral).ConclusionPFV is significantly more common than previously reported, and outcomes are comparable to that for congenital and infantile cataract overall.

Screening and early treatment on ophthalmopathy of premature infant

Objective To investigate the clinical significance of screening and early treatment on the eye disease of premature infant. Methods The fundus examination results with children wide-area digital fundus imaging system and photographs of 2852 eyes of 1426 premature infants from July 2013 to July 2015 in our hospital were taken. The data were analyzed and the early treatment was given. Results Among the fundus of 2852 eyes of premature infants, there were 182 eyes of retinopathy of prematurity, 18 eyes of congenital cataract, 5 eyes of familial exudative vitreoretinopathy, 4 eyes of persistent hyperplastic primary vitreous, 3 eyes of congenital choroidal coloboma, 2 eyes of congenital optic disc dysplasia, and 2 eye of congenital microphthalmia. There were 216 (7.57%) infants suffering from ophthalmopathy in total. In the 182 eyes of retinopathy of prematurity, 37 eyes received retinal laser photocoagulation, 16 eyes received intravitreal injection, 15 eyes received intravitreal injection combined with retinal laser photocoagulation, 5 eyes received vitrectomy combined with retinal laser photocoagulation, and some infants gave up the treatment. Conclusion Screening and early treatment on oculopathy of premature infant improve the vision and survival quality. Key words: Ophthalmopathy, prematurity; Screening; Children wide-area digital fundus imaging system; Treatment, early; Vitrectomy

Developmental regression of hyaloid vasculature is triggered by neurons.

Vascular development involves not only vascular growth, but also regression of transient or unnecessary vessels. Hyaloid vasculature is the temporary circulatory system in fetal eyes, which spontaneously degenerates when the retinal blood vessels start to grow. Failure of the hyaloid vessels to regress leads to disease in humans, persistent hyperplastic primary vitreous, which causes severe intraocular hemorrhage and impairs visual function. However, the mechanism underlying the endogenous program that mediates spontaneous regression of the hyaloid vessels is not well understood. In this study, we identify a robust switch triggering this program directed by neurons in mice. Marked up-regulation of vascular endothelial growth factor (VEGF) receptor 2 (VEGFR2) occurs in retinal neurons just after birth via distal-multipotent-mesodermal enhancer, a hemangioblast-specific enhancer of VEGFR2. Genetic deletion of neuronal VEGFR2 interrupts this program, resulting in massive hyaloid vessels that persist even during late postnatal days. This abnormality is caused by excessive VEGF proteins in the vitreous cavity as a result of impairment in the neuronal sequestration of VEGF. Collectively, our data indicate that neurons trigger transition from the fetal to the postnatal circulatory systems in the retina.

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.

PurposeFive-year prospective data on children enrolled in the Infant Aphakia Treatment Study (IATS) provided an opportunity to explore ocular and systemic associations in patients with a unilateral congenital cataract.MethodsInfants <7 months of age with a unilateral cataract were eligible for IATS screening. We reviewed data pertaining to the exclusion of patients as well as data collected on standardized study forms used at any time for documentation of ocular or systemic disorders.ResultsOverall, 227 infants were referred for possible enrollment. Of these, 10 had insignificant cataracts and 32 refused to participate. Of those excluded, 3 were premature, 27 had significant ocular disease (usually persistent fetal vasculature (PFV) or corneal diameter <9 mm), and 4 had systemic disorders. An additional 26 were excluded at the time of the first EUA, most often because of PFV or variants thereof. On follow-up, in the 114 enrolled patients, the following disorders were diagnosed: Stickler syndrome (1), mitochondrial disease (1), autism (1), and presumed congenital rubella syndrome (1). No patient developed a cataract in the fellow eye.DiscussionSome conditions that can feature unilateral cataracts are diagnosed at birth or very early in life, but others may be diagnosed at varying periods thereafter. PFV and its variants are the most common associated ocular findings in about a quarter of cases of unilateral congenital cataracts.ConclusionAlthough patients with a unilateral cataract may have significant associated abnormalities in the affected eye, most commonly PFV and its variants, the prevalence of associated significant systemic disease is quite low.