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.

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.

Long-term visual and anatomic outcomes following early surgery for persistent fetal vasculature: a single-center, 20-year review.

BACKGROUND: Persistent fetal vasculature (PFV) is a spectrum of congenital anomalies caused by complete or partial failure of the ocular fetal vasculature to regress. We report the visual and anatomic outcomes in a large cohort of patients who underwent early surgery for PFV. METHODS: We retrospectively reviewed the medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV without primary intraocular lens implantation through limbal or pars plana/plicata approach. Inclusion criteria were surgery prior to 7 months of age, with at least 12 months of follow-up. Eyes with severe posterior segment involvement and retinal detachment deemed beyond repair were excluded. RESULTS: A total of 58 patients met inclusion criteria. Mean age at surgery was 2.1 ± 1.5 months. Mean follow-up was 6.7 ± 4.2 years. At final follow-up, 19 eyes (33%) had visual acuity better than 1.0 logMAR. Thirty-three eyes (57%) developed 1 or more postoperative adverse events: glaucoma in 21 (36%) and retinal detachment in 11 (19%), 8 of which occurred in eyes that had pars plana or pars plicata incisions (P = 0.002). In patients with limbal incisions, 17 of 40 (43%) achieved a visual acuity better than 1.0 logMAR, compared with 2 of 18 patients (11%) with a pars plana/pars plicata incision (P = 0.03). CONCLUSIONS: In our study cohort, early surgery for PFV achieved functional visual acuity in about one-third of patients. Limbal approach to surgery may result in better visual acuity and anatomic results.

Comparison of Manual Capsulorhexis and 25-Gauge Vitrectorhexis in Pediatric Cataract Surgery: A Pilot Study.

PURPOSE: To compare short-term visual outcomes (best corrected visual acuity [BCVA]), visual axis opacification, anterior (ACCC) and posterior (PCCC) continuous curvilinear capsulorhexis size, shape, and extension, and their decentration between manual capsulorhexis and 25-gauge vitrectorhexis in pediatric cataract surgery with intraocular lens (IOL) implantation. METHODS: Thirty eyes of children aged 3 to 8 years with developmental cataract were randomly selected for ACCC and PCCC by manual capsulorhexis forceps and 25-gauge vitrectomy cutter followed by IOL implantation and limited anterior vitrectomy. The size of the ACCC and PCCC was measured intraoperatively with calibrated capsulorhexis forceps. Patients were followed up for 3 months postoperatively and were evaluated for BCVA and visual axis opacification. Slit-lamp photographs of operated eyes were taken in retroillumination. The size in millimeters and decentration of the ACCC and PCCC from the center of the IOL were measured with the help of the Python imaging library. RESULTS: There was no statistically significant difference between BCVA (P > .05), visual axis opacification (P > .05), size of the ACCC (P > .05) and its decentration (P > .05), extension of the rhexis (P > .05), and size of the PCCC (P > .05) and its decentration (P > .05) between the two methods. CONCLUSIONS: In both groups, BCVA, visual axis opacification, and ACCC and PCCC size, shape, and decentration from the center of the IOL were comparable, making 25-gauge vitrectorhexis a good alternative to manual capsulorhexis. [J Pediatr Ophthalmol Strabismus. 2019;56(5):327-332.].

Regression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature. Here we report a case of nonsurgical unilateral anterior PHPV that was managed by amblyopia treatment and resulted in an improvement of visual acuity and regression of the fetal vasculature. CASE PRESENTATION: A three-year-old girl was diagnosed with unilateral anterior PHPV in the left eye, manifested with posterior pole cataract, posterior capsule opacification, tunica vasculosa lentis, and a floating hyaloid artery connected to the retrolental mass. The plaque was not large enough to fill the pupil, and conservative management along with amblyopia treatment was conducted. Nineteen months later, the visual acuity in the affected eye improved from 20/100 to 20/50 with correction, and the fetal vasculature regressed gradually and finally into a nonperfusion ghost vessel. CONCLUSIONS: In PHPV-affected children, regression of the fetal vasculature may be observed, and conservative management and amblyopia treatment may be helpful for visual improvement.

Management of severe persistent fetal vasculature: case series and review of the literature.

PURPOSE: Persistent fetal vasculature (PFV) is a unique ocular disorder usually presenting early in life. The unregressed embryonal hyaloid vasculature poses a risk of severe ocular complications leading to decreased visual acuity. Surgery is the mainstay of therapy in complicated cases. We describe the clinical presentation and surgical treatment of PFV managed at our center from 2012 to 2015. METHODS: The study is a case series comprised eight patients who were diagnosed with complicated severe PFV. All were managed with a tailored surgical approach. The clinical characteristics, medical and surgical treatment, and follow-up findings of each case are described. RESULTS: There were six males and two females. Surgical intervention involved anterior or posterior vitrectomy, lens extraction, and intraocular lens implantation. Hyaloid stalk removal with release of ciliary traction was variably utilized in selected cases. Endodiathermy controlled intraocular bleeding, and intraocular scissors proved helpful in anterior PFV for disinserting the ciliary process from an abnormally thickened posterior lens capsule. Visual outcomes differed in each case, depending on multiple clinical factors. CONCLUSION: Severe complex PFV presents a therapeutic challenge. A tailored surgical approach with meticulous postoperative management is essential for visual rehabilitation.

Influence of the vitreolenticular interface in pediatric cataract surgery.

PURPOSE: To report the status of Berger space in pediatric cataract cases and the influence of anterior vitreolenticular interface dysgenesis during primary posterior continuous curvilinear capsulorhexis (PCCC). SETTING: Department of Ophthalmology, Antwerp University Hospital, Edegem, Belgium. DESIGN: Prospective case series. METHODS: The study comprised consecutive pediatric cataract cases planned for bag-in-the-lens intraocular lens (BIL IOL) implantation. A video-based analysis of the surgical interventions included the type of crystalline lens opacification, presence of a posterior capsule plaque (PCP), presence of anterior vitreolenticular interface dysgenesis, complications during primary PCCC, integrity of the anterior hyaloid membrane, need for anterior vitrectomy, and feasibility of BIL IOL implantation. RESULTS: Abnormalities in Berger space were observed in 35 of the 64 pediatric cataract cases. Anterior vitreolenticular interface dysgenesis was most often found in cases with persistent fetal vasculature (PFV) and those with posterior cataract. Anterior vitreolenticular interface dysgenesis was diagnosed significantly more often in eyes with unilateral cataract and those with PCP. In pediatric cataract cases presenting with PCP and anterior vitreolenticular interface dysgenesis, the primary PCCC procedure was surgically more demanding, often resulting in detectable breaks in the anterior hyaloid membrane (58.6%) and sometimes necessitating an unplanned anterior vitrectomy (13.8%). Bag-in-the-lens IOL implantation was feasible in all except 1 eye with PFV, which was left aphakic. CONCLUSIONS: Primary vitreolenticular interface abnormalities are often encountered during pediatric cataract surgeries, especially when confronted with PCP in a unilateral cataract. The presence of anterior vitreolenticular interface dysgenesis may complicate a primary PCCC procedure, resulting in an unplanned anterior vitrectomy in some cases.

[Morphological features of clinical manifestations of particular congenital lens and vitreous anomalies]. / Morfologicheskie osobennosti klinicheskikh proiavleniĭ nekotorykh vidov vrozhdennykh anomaliĭ khrustalika i steklovidnogo tela.

The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present. According to the authors, their analysis helps justify the use of digital three-dimensional ultrasound examination for intravital evaluation of congenital changes in the lens and vitreous.

[Embryological aspects of clinical presentations of congenital lens and vitreous anomalies]. / Émbriologicheskie aspekty klinicheskikh proiavlenii vrozhdennykh izmenenii khrustalika i steklovidnogo tela.

This report gives a general overview of embryological features of the human eye. Key literature sources published during the last century on evaluation of congenital changes in the vitreous body and identification of signs of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed in terms of general pathology of the human body as well as local morphological manifestations. According to the authors, such an approach justifies the need for comparison of clinical manifestations of congenital lens and vitreous changes with possible embryonic defects.

Combined Persistent Fetal Vasculature: A Classification Based on High-Resolution B-Mode Ultrasound and Color Doppler Imaging.

PURPOSE: The purpose of this study was to classify combined persistent fetal vasculature (PFV) on the basis of the ultrasonographic and Doppler characteristics. The potential clinical significance for both surgery design and prognosis determination was discussed. DESIGN: A cross-sectional case series. PARTICIPANTS: The eyes of 54 children diagnosed with unilateral combined PFV were evaluated using B-mode ultrasound and color Doppler imaging (CDI). METHODS: Each participant's age at first presentation, diagnosis for referral, gender, family history, and systemic or other ocular anomalies were recorded. Retinal detachment, optic nerve abnormalities, and macular dislocation were also recorded in detail according to the RetCam (Clarity Medical Systems, Pleasanton, CA), ultrasound, and Doppler findings. The PFV eyes were divided into 4 groups on the basis of the ultrasound and CDI findings. Intergroup analysis was performed. MAIN OUTCOME MEASURES: Overall and intergroup analyses of the demographic features of the children with PFV were performed. The axial length, depth of the anterior chamber, and lens thickness were compared between the affected eyes and the fellow healthy eyes among the 4 groups. RESULTS: Some 22.2%, 18.5%, 33.3%, and 25.9% of the eyes were grouped into type I ("I" shape), II ("Y" shape), III (inverted "Y" shape), and IV ("X" shape) combined PFV, respectively. The age at first presentation for type I was older than that for the other groups (P = 0.014). The axial length was reduced (P = 0.012) and the anterior chamber more shallow (P = 0.011) than in fellow healthy eyes for type IV eyes, but not for the other 3 groups. CONCLUSIONS: Ultrasound and CDI are informative screening and diagnostic tools that show characteristic flow patterns in the 4 types of combined PFV. This novel classification system provides new and important information for the diagnosis of PFV and, if validated, may play a role in guiding treatment recommendations in the future.

[The diseased vitreous body: Malformations, developmental disorders and opacities]. / Der kranke Glaskörper : Missbildungen, Entwicklungsstörungen und Trübungen.

Remnants of a persistent hyaloid artery can occasionally cause cataracts and traction on the retina at the posterior pole of the eye.It is the task of the ophthalmologist to weigh up the risk of amblyopia against the risks of vitrectomy and lensectomy. The retina is primarily intact. This is different from the group of hereditary vitreoretinal dystrophies where defects in the retina and vitreous body contribute equally to the overall clinical manifestations. Familial exudative vitreoretinopathy (FEVR) of childhood is sometimes misdiagnosed as uveitis. Retinal exudates leak from enormously permeable retinal vessels and it is necessary to completely remove such abnormal vessels to stop progression. The peculiar vitreous opacities consist of paper-like veils which are stacked like onion skins. The FEVR simulates retinopathy of prematurity and other exudative vitreoretinopathies. Stickler and Wagner syndromes are associated with a high risk of rhegmatogenous retinal detachment, similar to giant retinal tears. Occasionally, extraocular manifestations, such as hyperextensive joints are indicative of a systemic connective tissue disease.The peripheral retina is mechanically weak and susceptible to tears and giant or multiple tears can occur. The prognosis is further aggravated by an elevated risk of proliferative vitreoretinopathy (PVR). It is, therefore, essential to identify the risk profile in this constellation and bear the risk of PVR in mind when selecting a treatment regimen, similar to that for giant tear retinal detachment.

Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation.

Persistent hyperplastic primary vitreous (PHPV) is an ocular developmental disorder resulting from incomplete apoptosis of the embryonic hyaloid vasculature. Unilateral PHPV is traditionally associated with a poor prognosis because of the challenges associated with managing progressive anisometropic amblyopia. We report a child with unilateral PHPV who underwent cataract extraction, primary posterior capsulotomy with anterior vitrectomy and intraocular lens implantation followed by combined trabeculectomy/trabeculotomy within the first 8 weeks of life. Intensive optometric and orthoptic input was required for many years to manage the increasing anisometropic amblyopia with final visual acuity of 20/40 unaided in the affected eye and without evidence of glaucomatous optic neuropathy. This case illustrates the excellent visual outcome possible in a child with complex, unilateral PHPV using an intensive management approach comprising: early surgical intervention for congenital cataract and secondary glaucoma, meticulous monitoring of refraction, visual acuity and intraocular pressure and motivated parents who engaged in the management.

Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit.

A 3-month wild rabbit was presented for examination of ocular opacities in the left eye. A complete bilateral ocular examination including slit-lamp examination, indirect ophthalmoscopy, tonometry, and ultrasound biomicroscopy was performed. Biomicroscopy of the lens of the left eye showed a retrolental fibrovascular membrane causing leukocoria. The opacity prevented biomicroscopy of the vitreous and funduscopy OS. No other disorder was present in either eye. Ultrasound examination did not show any difference between the right and left eye. Histopathological examination showed a 50-µm thick, preretinal, retrolental, nonpigmented, fibrovascular tissue. Posterior synechiae were present, but no other lesion of the posterior segment was found in this eye. These ocular abnormalities are consistent with a persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous (PHTVL/PHPV), similar to those described in other species.

Case 206: persistent hypertrophic primary vitreous.

History This patient was a 20-month-old full-term girl who had not received any routine pediatric care. During a physical examination, left-sided leukocoria was detected. Subsequently, a left-sided cataract was diagnosed. The patient was sent for magnetic resonance (MR) imaging of the brain and orbits.