Persistent Hyperplastic Primary Vitreous Research Articles

Pediatric cataract surgery in congenital anterior segment dysmorphology: An overview

Abstract The purpose is to highlight the surgical modifications that are undertaken for a safe cataract surgery when associated with anterior segment dysmorphology. Surgical modifications that are undertaken in a case of congenital cataract complicated with congenital anterior segment dysmorphology such as microcornea, congenital corneal opacity, aniridia, anterior and posterior lenticonus of the lens, and persistent fetal vasculature are described. Careful preoperative assessment is crucial to anticipate and plan for intraoperative and postoperative challenges that may arise during cataract surgery in the presence of anterior segment dysmorphology. Surgical adjustments in cataract surgery when associated with anterior segment dysmorphology should be tailored to each individual case and the surgeon’s expertise.

Efficacy of intracameral mydriatics in pediatric lens surgery.

Introduction To evaluate the efficacy of intracameral administration of Mydrane® in children undergoing lens surgery. Methods We set up a single center prospective cohort trial including 40 consecutive patients between 8 weeks and 17 years old who were planned for lens surgery, including cataract, persistent fetal vasculature (PFV) or lens subluxation. We injected 0,1 ml of intracameral Mydrane at the beginning of surgery, no preoperative mydriatic eye drops were used. The aim of the study was to measure pupil size, and to monitor the evolution of the pupil size during surgery and the need for additional pupil expanding techniques. Results In 30 patients (75% (95%CI: 59 - 87%)), we did not need additional manipulations to obtain sufficient pupillary dilatation to perform the surgery and to implant an intraocular lens (IOL) following the bag-in-the-lens (BIL) technique. In the remaining 10 patients (25%), we saw an initiation of dilatation, but not to the required pupil diameter to continue the surgery without additional surgical maneuvers. The duration of surgery was significantly longer in the partial response group, reflecting the need for additional surgical steps. A significant relation between increase of pupillary diameter and age (P = 0.003), gender (P = 0.032) and horizontal corneal diameter (P < 0.001) could be shown. Even at baseline there is a larger pupil diameter in eyes with larger horizontal corneal diameters (p=0.039). No adverse events were observed during this study. Conclusion Intracameral administration of Mydrane resulted in some degree of dilatation in all eyes in this series, 75% of eyes did not need additional techniques to proceed with the surgery. Smaller pupils at baseline, younger age, male sex and small horizontal corneal diameter were related to a poorer response to Mydrane. The mydriasis persisted for the entire duration of the surgery, no ocular adverse events were observed during this study. This leads us to conclude that intracameral Mydrane is an effective and safe way to dilate the pupil in pediatric lens surgery.

Histopathologic findings of the lens capsule and persistent hyperplastic primary vitreous in Korean pediatric cataract patients

This study aimed to measure lens capsule thickness and investigate histopathologic characteristics of persistent hyperplastic primary vitreous (PHPV) in Korean pediatric cataracts. We analyzed lens capsules from 116 eyes of 83 pediatric cataract patients treated between 2011 and 2015. The mean thickness of the anterior/posterior capsule was 7.21 ± 1.74/4.39 ± 1.41 μm. PHPV was observed in 11.2% (13/116) of eyes. Histologic examination revealed that PHPV is typically characterized by retrolenticular membranes with hypercellular membrane tissue comprising vascular structures and/or mesenchymal cells, seen in 69% of cases. Only 3 patients had hyaloid arteries and endothelium-lined blood vessels in the retrolenticular membranes, whereas six eyes showed only mesenchymal cells. Lens capsule thickness did not significantly vary with age or the presence of PHPV in Korean pediatric cataracts. The primary histological characteristic of PHPV was the presence of mesenchymal cells, with or without vascular structures, supporting the role of endothelial-mesenchymal transition as a key mechanism in vascular regression.

Wagner Syndrome-like fundus presentation of atypical Persistent Fetal Vasculature.

To report the case of a woman with atypical Persistent fetal vasculature (PFV) accompanied by more typical findings of Wagner Syndrome. A 58-year-old woman complained about persistent flashes and floaters for more than 6 months. Multimodal retinal imaging showed Bergmeister papilla and a fibrous gray strand floating behind the macula in the right eye. Ultra-wide field retinography revealed a 270° paving-stone degeneration and a nasal circumferential vitreous veil in both eyes. Functional and genetic testing were negative for inherited retinal diseases. PFV spectrum confirms its heterogeneous presentation. We report an atypical adult PFV case in presence of retrolental and optic nerve head stalks, accompanied by extensive peripheral vitreoretinal degenerations. This case may expand the current understanding of PFV presentation in adulthood.

Persistent Vetal Vasculature-Vitreoretinal Surgery

Persistent fetal vasculature (PFV), previously known as persistent hyperplastic primary vitreous (PHPV), is a spectrum of congenital anomalies caused by complete or partial failure of the fetal hyaloid vasculature to regress. The severity of the disease may vary depending on the affected intraocular structures and anatomical variations. The outcomes of surgery depend on the type, location, extent, and severity of the disease. The aim of this review is to focus on surgical indications and techniques, and the prognosis of PFV in the current literature and our clinical experience.

Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact.

Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presence of the orbits and the lenses. However, in recent years, with the advent of high-resolution ultrasound technology and increasing knowledge of prenatal medicine and genetics, careful examination of the fetal eye has enabled the detection of many ocular malformations before birth. This article provides an overview of the anatomy related to the development of the fetal eye and covers the following conditions: hypertelorism, hypotelorism, exophthalmos, microphthalmos, coloboma, cataract, persistent hyperplastic primary vitreous, retinal detachment, dacryocystocele, and septooptic dysplasia, etc. It is designed to illustrate the spectrum of ocular malformations and their appearance on prenatal ultrasound and to discuss their clinical impact and association with various syndromes.

Coexistent morning glory syndrome and persistent hyperplastic primary vitreous

Coexistent morning glory syndrome and persistent hyperplastic primary vitreous

Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium

PurposeTo investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies. MethodsThis retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings. ResultsAll eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other. ConclusionsThis study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development.

Rare association of lens coloboma and retinitis pigmentosa in Marfan syndrome

A 17-year-old female, a known case of Marfan syndrome, presented with complaints of diminution of vision in both the eyes for 10 years. Clinical examination revealed that the presence of lens coloboma with advanced retinitis pigmentosa (RP) in the right eye and left eye showed cataractous changes along with persistent hyperplastic primary vitreous (PHPV) on ultrasonography B scan. This report describes the rare association of RP, lens coloboma, and PHPV in Marfan syndrome.

Traumatic hyphema in a neonate: An unusual presentation

Subconjunctival hemorrhages following forceps delivery are common. However, their presence with hyphema is rare. This case report describes a full-term neonate who was initially examined for trauma and subconjunctival hemorrhage in both eyes with diffuse hyphema in right eye following forceps delivery. The anterior segment showed nondilating pupil with fine blood vessels on the iris in one eye along with tunica vasculosa lentis. B-scan showed a hyperechoic line in the vitreous suggestive of unilateral persistent fetal vasculature.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report

BackgroundMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chorioretinopathy. Additional features can include microphthalmia, angle-closure glaucoma, persistent hyperplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hypermetropic astigmatism. The appearance of the chorioretinal lesions as white to pinkish, round, non-elevated atrophic areas devoid of blood vessels resembles the lacunae in Aicardy syndrome. Due to the lack of systematic description of the lesions and significant phenotypical variability, there is an impending need for a detailed report of each case.Case presentationA child with microcephaly detected in the third trimester of gestation began her following in the ophthalmology department due to a non-visually significant cataract. Shortly after, she developed nystagmus and large-angle alternating esotropia with cross-fixation. Her fundus initially showed a pallid optic disc and pigmentary changes, developing thereafter retinal lacunae and a retinal fold. Her differential diagnosis accompanied the dynamic changes in her fundus, which included congenital infections, Leber´s Congenital Amaurosis and Aicardy syndrome. At 19 months old, genetic testing identified a heterozygous mutation (c.1159 C > T, p.Arg387*) in the KIF11 gene. The patient underwent bilateral medial rectus muscle recession surgery at 2 years old for persistent esotropia, with significant improvement. Refraction revealed a hyperopic astigmatism in both eyes (+ 0.25 -2.50 × 180 OD and + 0.75 -2.00 × 170 OS). She continues to require right eye patching for 2 hours daily.ConclusionsThis case report expands the phenotypic spectrum of MCLMR by demonstrating a unique combination of retinal features which sheds new light on differential diagnosis from Aicardy syndrome. Our findings emphasize the significant phenotypic variability associated with MCLMR, particularly regarding ocular involvement. This underscores the importance of detailed clinical evaluation and comprehensive reporting of cases to improve our understanding of the disease spectrum and genotype-phenotype correlations.

The Red Reflex Test and Leukocoria in Childhood.

The red reflex test, performed using a direct ophthalmoscope, serves as a critical diagnostic tool in identifying various ocular conditions. These conditions encompass retinal anomalies (such as retinoblastoma, Coats disease, retinopathy of prematurity, familial exudative vitreoretinopathy, myelinated nerve fibers, ocular toxocariasis, ocular toxoplasmosis, retinochoroidal coloboma, astrocytic, and combined hamartoma), vitreous abnormalities (including persistent fetal vasculature), lens issues (like cataract), anterior chamber and corneal conditions (comprising dysgenesis of the anterior segment, congenital glaucoma, birth trauma), and tear film disturbances. During this examination, the presence of leukocoria, characterized by a white pupillary reflex, can suggest the presence of underlying conditions. Any suspicion of an abnormal red reflex test warrants immediate evaluation by a qualified ophthalmologist. This article primarily underscores the paramount importance of the red reflex examination, not only to identify potential sight-threateningbut also life-threatening conditions. It delves into the most common causes of leukocoria in childhood and offers insights into a comprehensive diagnostic approach. The target audience for this article includes pediatricians, primary care clinicians, and ophthalmologists, all of whom play a pivotal role in the early detection and intervention of these critical eye disorders.

Endoscopic Surgery for Congenital or Acquired Cataract Associated with Persistent Fetal Vasculature: A Case Series.

Persistent fetal vasculature (PFV) is a congenital malformation caused by a failure in regression of the primary vitreous and hyaloid vessels. An abnormal PFV occurs in the anterior and posterior segments of the eye. Surgery for PFV carries the risk of retinal detachment. We report four cases of cataracts associated with PFV, in which our novel surgical technique with an intraocular endoscope was safely performed. Lensectomy and vitrectomy were performed in cases 1, 3, and 4, while lensectomy, vitrectomy, and intraocular lens implantation using an endoscope were performed in case 2. In all cases, after lens removal, a slit at the posterior lens capsule was created to avoid the retrolental fibrovascular membrane using underwater electric coagulation. Moreover, the endoscope was inserted, by which the intraocular region was observed to determine the treatment method for the fibrovascular membrane and vitreous stalk. No additional surgeries were required for complications before or after any of the surgeries. Using an endoscope during cataract surgery associated with PFV, observing the vitreous stalk at high magnification and ensuring safe treatment were possible. Endoscopic surgery could be considered an effective method for treating PFV-associated cataracts.

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations

PurposeBilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation.MethodsRetrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects.ResultsTwenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families.ConclusionsCombined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Pediatric Surgical Outcomes of Persistent Fetal Vasculature: A Five-Year Retrospective Study at a Tertiary Eye Center in Kazakhstan

Pediatric Surgical Outcomes of Persistent Fetal Vasculature: A Five-Year Retrospective Study at a Tertiary Eye Center in Kazakhstan

Revision of Initial Referral Diagnosis after Genotypic Confirmation of Familial Exudative Vitreoretinopathy

PurposeTo describe common referral diagnoses of FEVR (Familial Exudative Vitreoretinopathy) DesignRetrospective case series. SubjectsPatients with phenotypic FEVR evaluated by the pediatric retina service at Bascom Palmer Eye Institute from March 1, 2019 to May 31, 2023. MethodsA retrospective detailed review of history, imaging, and genetic testing was performed for all patients included in the study. Main Outcome MeasuresThe primary outcome measures included genetic evaluation, clinical imaging and characteristics. Secondary outcome measures were age and stage of disease at diagnosis. ResultsFifty-five patients with phenotypic and genetically confirmed FEVR were identified. Of these, the initial diagnosis was incorrect upon referral in 33 cases (60%). The referral diagnoses included Coats disease (n =2, 7%), toxoplasmosis (n=2, 7%), retinal detachment (n=6, 18%), persistent fetal vasculature (PFV) (n =5, 15%), suspected inherited retinal disease (n=2, 7%), myopia (n=3, 9%), retinopathy of prematurity (ROP) with preterm gestational age (n=7, 21%), and ROP at moderate to late preterm gestational age (n=6, 18%). The mean age at diagnosis was 8.78 years and 6.42 years for patients with revised diagnosis versus initial diagnosis of FEVR, respectively (p =0.4). There was no correlation between age of diagnosis and stage of disease (p =0.8). ConclusionsA high index of suspicion for FEVR must be maintained given the heterogeneity of phenotypes. Atypical cases of PFV, Coats disease, and ROP should prompt fluorescein angiography and genetic evaluation.

Ultrasonography in Detecting the Posterior Segment Pathology in Pre-Operative Cataract Patient

Background: Cataract is the leading cause of blindness globally, accounting for approximately 47.8% of blindness worldwide and 51.5% in Pakistan. The opacity of the lens in cataract patients obstructs the visualization of the posterior segment, making it challenging to predict visual outcomes post-surgery. Ultrasonography, particularly B-scan, plays a crucial role in identifying posterior segment pathologies before cataract surgery, aiding in surgical planning, and improving postoperative visual prognosis. Objective: This study aimed to evaluate the effectiveness of B-scan ultrasonography in detecting posterior segment pathologies in patients with dense cataracts, thus assisting in preoperative planning and predicting visual outcomes. Methods: This descriptive cross-sectional study was conducted at the Outpatient Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, from August 15th, 2019, to February 15th, 2020. A total of 260 eyes from patients with dense cataracts were included. Patients of all age groups and both sexes, including those with traumatic and non-traumatic cataracts, were examined. Exclusion criteria included transmittable ocular surface infections, penetrating ocular trauma, previous glaucoma or vitreoretinal surgery, and siliconized eyes. B-scan ultrasonography was performed using an 8-10 MHz frequency probe. The eye globe was assessed in axial, longitudinal, and transverse positions. Data were recorded and analyzed using SPSS version 25. Ethical approval was obtained from the institutional review board, and the study adhered to the Declaration of Helsinki. Results: Out of 260 eyes examined, 97 (37.3%) were right eyes, 105 (40.4%) were left eyes, and 58 (22.3%) had bilateral involvement. Normal findings were observed in 215 eyes (67.8%), while 32.2% showed posterior segment pathologies. The most common pathology was posterior vitreous detachment (PVD), found in 24 eyes (7.6%). Retinal detachment and vitreous hemorrhage were each observed in 15 eyes (4.7%). Other findings included asteroid hyalosis (18 eyes, 5.7%), vitreous inflammation (11 eyes, 3.5%), intraocular foreign body (3 eyes, 0.9%), persistent hyperplastic primary vitreous (1 eye, 0.3%), and posterior staphyloma (2 eyes, 0.6%). Conclusion: B-scan ultrasonography is an effective tool for detecting posterior segment pathologies in preoperative dense cataract patients, significantly influencing surgical strategies and postoperative visual outcomes. Routine use of ultrasonography in cataract patients can enhance surgical planning and improve patient counseling and prognosis.

Persistent Fetal Vasculature with Pediatric Cataract, Microcornea, Sensory Exotropia and Mental Retardation: A Case Report

Introduction : Persistent Fetal Vasculature (PFV) is a congenital, nonhereditary ocular malformation that frequently involves the lens. PFV is most frequently unilateral. The classical presentation is leukocoria, microphthalmia, and cataract.&#x0D; Case Illustration : A 16-year-old boy patient with mental retardation, came with chief complaint blurred vision and white appearance on the RE, noticed for 1 month ago. Visual acuity of the RE was LPBP and the LE was 6/120. There was microcornea on both eyes with diameter 8 mm. Lens opacity and exotropia with XT 30 0 on the RE. IOP on both eyes was normal. Funduscopic on the RE was negative and LE there was tigroid retina. Ultrasonography of the RE was echogenic with minimal after movement and low to moderate spikes. Planning for this patient were RE lens extraction with IOL. After that evaluate for the posterior segment.&#x0D; Discussion : Progressive cataract formation often occurs, sometimes leading to a complete cataract. Strabismus associated with a unilateral cataract. The most important was differentiating PFV from retinoblastoma. In patients with poor view of the fundus, ultrasonography should be performed. Retinal or optic nerve abnormalities cannot be definitively ruled out, however, until the posterior pole can be visualized directly. The opacity in the affected eye should be cleared to allow visual development and to save the eye from complications of untreated PFV.&#x0D; Conclusion : It is important to obtain a detailed history of the child’s growth, development, systemic disorders, family history, and need further comprehensive examination and multidiscipline consultation to establish the diagnose.

PROFILE OF UNILATERAL CATARACT IN PEDIATRIC PATIENTS: A 3 YEAR RETROSPECTIVE STUDY

Introduction and Objective: Unilateral cataract presents from 19.6% to 55.5% of pediatric cataract. This condition is treatable, but delayed treatment may cause visual impairment. This study aims to understand characteristic of unilateral cataract in children. Methods: This study was descriptive review of patients aged 0-17 years old with unilateral cataract at Dr. Kariadi Hospital, Semarang. Data were collected from medical record of patients from January 2019 to December 2022. Results: Sixty patients were included in this study, 56.7% of whom were male and 43.3% were female. The mean age at presentation is 71.50 ± 48.34 months with whitish eye being the most common main complaint (65%), followed by blurred vision (35%) and squinting of eye (5%). Most of patients had congenital or infantile cataract (60%), followed by traumatic (36.6%), uveitis (1.7%) and iatrogenic (1.7%). Some of patients had microcornea (21.7%), persistent pupillary membrane (8.3%), retinopathy of prematurity (3.3%), persistent fetal vasculature (8.3%), nystagmus (8.3%), amblyopia (20%) and strabismus (40%), with exotropia being the most common type (33.3%). Most of patients did not have systemic disease (93.3%), but we found two patients had congenital rubella syndrome, one had congenital cytomegalovirus, one had down syndrome. Conclusion: Etiology of unilateral pediatric cataract mostly idiopathic followed by traumatic. Leukocoria was the most common complaint, followed by blurred vision and strabismus. In unilateral cataract, exotropia was more common type of strabismus.

Pediatric orbital lesions: ocular pathologies.

Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1 of this orbital series, the authors will discuss the differential diagnosis and key imaging features of pediatric ocular pathologies. These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glory disc anomaly, retinopathy of prematurity, Coats disease), optic disc drusen, infective and inflammatory lesions (uveitis, toxocariasis, toxoplasmosis), and ocular neoplasms (retinoblastoma, retinal hamartoma, choroidal melanoma, choroidal nevus). This pictorial review provides a practical approach to the imaging work-up of these anomalies with a focus on ocular US as the first imaging modality and additional use of CT and/or MRI for the evaluation of intracranial abnormalities. The characteristic imaging features of the non-neoplastic mimics of retinoblastoma, such as persistent fetal vasculature and Coats disease, are also highlighted.