Leukocoria Due to Persistent Hyperplastic Primary Vitreous.

This case report discusses a diagnosis of persistent hyperplastic primary vitreous presenting as leukocoria in a boy aged 50 days.

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

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

Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.

We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.

Outcomes and Complications 5 Years After Surgery for Pediatric Cataract Associated With Persistent Fetal Vasculature.

PURPOSE: To report 5-year outcomes after surgery for cataract associated with persistent fetal vasculature (PFV). DESIGN: Clinical cohort study using pediatric cataract registry data collected annually from medical records. METHODS: This study included 64 children <13 years of age who were undergoing surgery for unilateral, nontraumatic cataract associated with PFV. Proportions with age-normal visual acuity (VA) and VA better than 20/200 at 5 years' follow-up were estimated. Cumulative incidences of complications and additional surgeries by 5 years were calculated. Outcomes were compared between eyes with unilateral PFV and eyes with unilateral non-PFV cataract from our registry. RESULTS: Forty-eight of 64 eyes were aphakic postoperatively (median age at surgery 2 months [range 1-13 months]) and 16 were pseudophakic (29 months [range 2-92 months]). Overall, 4 of 42 eyes (10% [95% confidence interval {CI} 3%-23%]) achieved age-normal VA. VA better than 20/200 was achieved in 17 (59% [95% CI 39%-76%]) unilateral aphakic PFV eyes and 44 (43% [95% CI 32%-54%]) unilateral non-PFV aphakic eyes (age-adjusted odds ratio = 1.90 [95% CI 0.81-4.50]; P = .14). The most common complication in aphakic PFV eyes was glaucoma-related adverse events (cumulative incidence 24% [95% CI 9%-37%]). There was no significant difference in glaucoma-related adverse events between PFV and non-PFV eyes in aphakic participants ≤1 year of age at lensectomy (age-adjusted hazard ratio = 1.20 [95% CI 0.54-2.64], P = .66). CONCLUSIONS: A wide range of visual outcomes for PFV cataract were observed with a 10% probability of achieving age-normal VA. There was an ongoing risk for the development of glaucoma-related adverse events in PFV eyes.

Bevacizumab as adjunctive therapy in anterior persistent fetal vasculature.

PURPOSE: Surgical removal of a vascularized pupillary membrane may be challenging with the risk of intraoperative bleeding and postoperative recurrence. We present a case of a 4-week-old who presented with anterior persistent fetal vasculature (PFV) and dense vascularized pupillary membrane in which the use of intracameral and intravitreal bevacizumab may have contributed to successful treatment. OBSERVATION: A 4-week-old-month-old otherwise healthy girl was referred to Boston Children's Hospital for evaluation of cataract. Ocular examination revealed right microcornea and vascularized pupillary membrane. The left eye exam was unremarkable. Only three weeks after surgical excision of the pupillary membrane and cataract extraction, recurrence of a vascular pupillary membrane was noted. Repeat membranectomy with pupilloplasty and use of intracameral bevacizumab was performed. The pupillary opening was further opened 5 months later, after repeat (intravitreal) bevacizumab, and the pupil has remained open and stable with >6 months' follow-up. CONCLUSION AND IMPORTANCE: This case suggests a role for bevacizumab in the management of PFV, however, a cause-and-effect relationship cannot be proven. Further prospective comparative studies are needed to confirm our findings.

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

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

Effect of Bergmeister papilla on disc parameters in spectral domain optical coherence tomography.

OBJECTIVES: To investigate the morphological characteristics of Bergmeister papilla (BMP), a persistent hyaloid remnant tissue, and its effects on the measurements and repeatability of spectral-domain optical coherence tomography (OCT). SUBJECTS/METHODS: The subjects of this prospective cross-sectional study including 83 patients with BMP and 76 unaffected individuals, all had open-angle structures. Images, including a 5-line raster and three consecutive optic disc cube scans centred on the optic disc, were acquired using the Cirrus high-definition OCT. BMP's structural characteristics were classified based on the raster scan images, and repeatability of acquiring optic nerve head and retinal nerve fibre layer parameters acquisition was analysed by calculating the test-retest standard deviation (Sw), coefficient of variance (CV), and intraclass correlation coefficient. RESULTS: BMPs (n = 83) were categorised into lifting edge (LE) type (63.9%, n = 53), which partially covers the edge of the optic nerve head, and covering disc (CD) type (36.1%, n = 30), which completely covers the cupping area like a cap. The average cup-to-disc ratio (0.58 ± 0.21), vertical cup-to-disc ratio (0.55 ± 0.21), and cup volume (0.22 ± 0.22) of the CD type were lower than those of the LE type (0.66 ± 0.13, 0.64 ± 0.13, and 0.4 ± 0.27, respectively; all P < 0.05). Tolerability indices for repeatability of cup volume (Sw = 0.40 and CV = 0.36) and inferonasal (4 o'clock) retinal nerve fibre layer (Sw = 0.27 and CV = 0.25) in LE-type BMPs exceeded the cut-off value (0.22) and demonstrated stronger correlation with BMP location than that of the controls. CONCLUSION: Caution should be exercised when interpreting OCT findings in eyes with BMP, as BMP can introduce a pitfall in OCT imaging.

Association of Bergmeister Papilla and Deep Optic Nerve Head Structures With Prelaminar Schisis of Normal and Glaucomatous Eyes.

PURPOSE: To investigate factors associated with the severity of prelaminar schisis (PLS) in heathy subjects and glaucoma patients. DESIGN: Prospective cross-sectional study. METHODS: A total of 217 eyes of 217 subjects (110 normal eyes and 107 open angle glaucoma eyes) were studied. Frequency and severity of PLS were compared between normal and glaucomatous eyes. Multivariate logistic models were used to assess factors associated with the severity of PLS. Factors considered were age, axial length, glaucomatous damage indices, Bruch membrane opening (BMO) and anterior scleral canal opening parameters, tractional forces (posterior vitreous staging and presence of Bergmeister papilla), circumpapillary choroidal thickness, lamina cribrosa (LC) parameters, and peripapillary scleral (PPS) angle. RESULTS: The frequency of PLS was 70.9% in normal eyes and 72.0% in glaucomatous eyes. There was no difference in frequency and severity between the groups. The presence of Bergmeister papilla was the strongest predictor of a more severe PLS in both normal and glaucomatous eyes (odds ratio [OR] + 9.78, 12.5; both P < .001). A larger PPS angle in normal eyes (OR = 1.19; P = .003) and a larger BMO area and a deeper LC depth in glaucomatous eyes (OR = 1.08, 1.05; both P = .038) were associated with severity of PLS. CONCLUSIONS: The severity of PLS was strongly associated with the presence of Bergmeister papilla, suggesting a traction-related phenomenon. Correlation of PLS severity with larger BMO area and deeper LC depth, which are optic nerve head structures associated with glaucoma, suggested its possible relationship with glaucomatous damage.

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

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

Coexistence of persistent fetal vasculature and retinoblastoma in the same eye.

BACKGROUND: As retinoblastoma (RB) is the most frequent primary intraocular malignant tumor in childhood, it should be the main pathology to rule out in pediatric patients with leukocoria. Persistence of fetal vasculature (PFV) is within the differential diagnosis of leukocoria, a vitreous disorder arising from a defect in the involution of the hyaloid vasculature in the embryonic stage, which affects normal ocular development and commonly produces associated microophthalmia. An early diagnosis and timely treatment are crucial for a better prognosis and life expectancy of the child. CASE REPORT: We present a case of retinoblastoma and coexisting with PFV: a 2-years-and 11-months-old male with no red reflex, and vasculature and yellowish-white membrane behind the lens of the right eye. B-mode ultrasound with disorganization of the vitreous cavity with high reflectivity echoes suggestive of calcification. On examination we found an enlarged eyeball, rubeosis iridis, posterior vasculature, intraocular pressure 28 mmHg. Computed tomography with heterogeneous intraocular mass with hyperdense regions. With a diagnosis of probable retinoblastoma, enucleation was performed. Histopathology reported moderately differentiated retinoblastoma coexisting with PFV. CONCLUSIONS: The finding of these two diagnoses in the same eye is very rare due to the different pathophysiology.

INTRODUCCIÓN: El retinoblastoma (RB) es el tumor maligno primario intraocular más frecuente en la infancia y debe ser la principal patología a descartar en los pacientes pediátricos con leucocoria. La persistencia de la vasculatura fetal (PVF) está dentro del diagnóstico diferencial de la leucocoria, un trastorno del vítreo que surge de un defecto en la involución de la vasculatura hialoidea en la etapa embrionaria que afecta al desarrollo ocular normal y comúnmente produce microoftalmia asociada. El diagnóstico temprano y tratamiento oportuno son cruciales para un buen pronóstico y mejor esperanza de vida del infante. CASO CLÍNICO: Presentamos un caso de coexistencia de retinoblastoma y PVF: paciente de sexo masculino de 2 años y 11 meses sin reflejo rojo y vasculatura y membrana blanco-amarillenta detrás del cristalino en el ojo derecho. La ecografía en modo B con desorganización de la cavidad vítrea con ecos de alta reflectividad sugestivos de calcificación. A la exploración se observó globo ocular agrandado, rubeosis iridis, vasculatura posterior, presión intraocular 28 mmHg. Tomografía computarizada con masa intraocular heterogénea con regiones hiperdensas. Con diagnóstico de probable retinoblastoma, se realizó la enucleación. La histopatología informó el hallazgo de retinoblastoma moderadamente diferenciado coexistente con PVF. CONCLUSIONES: El hallazgo de estos dos diagnósticos en un mismo ojo es muy poco frecuente debido a la diferente fisiopatología.

Intraoperative OCT Angiography in Pediatric Patients with Persistent Fetal Vasculature.

PURPOSE: To describe abnormalities of the optic nerve microvasculature in patients with persistent fetal vasculature (PFV) and their fellow eyes using OCT angiography (OCTA). DESIGN: Cross-sectional study. SUBJECTS: Fifty eyes of 25 patients with PFV who underwent prospective imaging using supine OCTA during examination under anesthesia at Bascom Palmer Eye Institute from March 1, 2019, to December 31, 2022. METHODS: OCT angiography images of the optic nerve of the included patients were analyzed with a primary focus on blood flow. Demographic, clinical, and treatment factors were compared with morphologic changes in the optic disc microvasculature. MAIN OUTCOME MEASURES: Prevalence of optic nerve microvascular abnormalities on OCTA in the affected and fellow eyes of patients with PFV. RESULTS: A total of 50 eyes from 25 patients were reviewed, and 28% (7/25) met image quality criteria for OCTA analysis. Optic nerve OCTA showed a persistent hyaloid artery (PHA) in all (7/7) PFV eyes analyzed. Of these, flow on OCTA was detectable in 57% (4/7). A Bergmeister papilla was evident in 100% (25/25) fellow eyes, of which flow was detected in 68% (17/25). Fluorescein angiography (FA) demonstrated blood flow within the stalk in 40% (10/25) of PFV eyes and within the Bergmeister papilla in 25% (6/25) of fellow eyes. Similar findings of abnormal blood flow and presence of fibrovascular stalk were seen in both treatment-naïve and treated groups. CONCLUSIONS: OCT angiography allows for high-resolution visualization of subtle vascular abnormalities that are not readily apparent using RetCam FA and may serve as a useful noninvasive test to confirm the patency of the PHA and Bergmeister papilla in children. The results of the present study suggest that PFV may be a bilateral and asymmetric process. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

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

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a clinical entity that traditionally presents with leukocoria, microphthalmia, retinal dysplasia, or eyeball shrinkage which is associated with poor vision. However, there is a dearth of literature on cases of PHPV in adulthood or with asymptomatic occurrence. This report presents the clinical and pathological findings of a non-typical PHPV case and discuss the current knowledge for this condition. CASE PRESENTATION: A 68-year-old healthy male was referred to our outpatient department for evaluation of age-related cataract without other visual symptoms. Preoperative fundus examination occasionally detected an isolated stalk-like band extending to the posterior pole of the eye with normal central vitreous and retina. Other ocular examinations including b-mode ultrasonography, optical coherence tomography did not unveil any abnormalities, which caused diagnostic uncertainty. We referred to cataract surgery along with histopathological study, that revealed characteristics of PHPV including fibrous connective tissues mainly composed of fibrocyte proliferation and a very few capillary vessels. Thereafter, a definitive diagnosis of non-typical PHPV was established. CONCLUSION: Our case is unique due to it was not discovered until adulthood, presence with only age-related cataract, and accompanied with normal central vitreous and retina. Histopathological explorations lead to an accurate diagnosis of the condition. Those results broaden the phenotype spectrums of PHPV and further provide clinical clues for the cognition of the disease.

Radial peripapillary capillary network in optic disc anomalies with abnormal tissues on disc surface.

Background: Optic disc anomalies with abnormal tissue on the disc surface includes, myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Imaging the radial peripapillary capillary (RPC) network in optic disc anomalies with optical coherence tomography-angiography (OCTA) can give information on the RPC network in these conditions. Purpose: This video describes the OCTA of optic nerve head and RPC network using the angio disc mode in cases of optic disc anomalies with abnormal tissue on the disc surface. Synopsis: This video presents characteristic features of RPC network in one eye each of myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Highlights: OCTA in optic disc anomalies with abnormal tissue on the disc surface show a dense RPC microvascular network. OCTA is an effective imaging modality to study vascular plexus/RPC and their alteration in these disc anomalies. Video link: https://youtu.be/zlflgijy56c.

Severe anterior persistent fetal vasculature: the role of anterior retinal elongation on prognosis.

PURPOSE: This study aims to investigate surgical outcomes of eyes with severe anterior persistent fetal vasculature (PFV) and the role of associated anatomical anomalies on prognosis. METHODS: This is a retrospective, comparative case series of 32 eyes of 31 patients who underwent vitreoretinal surgery for severe anterior PFV, defined as fibrovascular tissue totally covering the back of cataractous lens. Based on the degree of anterior retinal elongations, cases were classified as follows: group 1, eyes with well-developed pars plana and minor/no abnormalities (n = 11, 34%); group 2, eyes with partially developed pars plana and broad-based elongations (n = 9, 28%); and group 3, eyes with no visible pars plana and fibrovascular membrane having 360° continuity with peripheral retina (n = 12, 38%). Complications and functional and anatomical outcomes were investigated. RESULTS: The median surgical age was 2 (1-12) months. The median follow-up was 26 (6-120) months. Seventy-three percent in group 1 achieved finger counting or better vision with a single surgery and without any pupillary/retinal complication. Groups 2 and 3 required 2.1 ± 0.9 and 2.6 ± 1.2 surgeries on average. Pupillary obliteration and RD occurred in 33% and 22% in group 2 and 58% and 67% in group 3. Retina remained attached after silicone oil removal in 89% of group 2 and 25% of group 3. Phthisis developed in 50% in group 3. CONCLUSION: Peripheral retinal anomalies are common in severe anterior PFV and have a major impact on prognosis. Prognosis is favorable in cases with mild-to-moderate anomalies with appropriate management of possible retinal tears. In eyes with 360° retinal elongations, severe fibrous proliferation and eventual eye loss are common.

Management and Outcomes of Posterior Persistent Fetal Vasculature.

PURPOSE: To describe clinical features, management, and outcomes of posterior persistent fetal vasculature (PFV) and suggest a management algorithm. DESIGN: Retrospective, consecutive case series. PARTICIPANTS: All children diagnosed with posterior PFV and treated or followed at the Rothschild Foundation Hospital in France between June 2011 and September 2021. METHODS: Retrospective analysis of the clinical characteristics of posterior PFV. We reported age, gender, presenting symptoms, intraocular pressure, and visual acuity (VA) at diagnosis. Patients were divided into 4 groups depending on the severity and involvement or not of anterior segment. We reported the vitreoretinal surgical techniques used. MAIN OUTCOME MEASURES: Anatomic results, ocular hypertension, best-corrected distance visual acuity (BCDVA), presence of postoperative adverse events, and additional surgical interventions were recorded at each follow-up visit. RESULTS: Ninety-six patients were included. The median age at diagnosis was 8 months (IQR = 12), mean 18.9 ± 30.9 months) with a mean follow-up of 27 ± 31.2 months. Although PFV is often an isolated disease, it was associated with a systemic disease in 8% of cases. There was anterior involvement in 62 (64%) of eyes. Forty-one eyes (42.7%) were microphthalmic and more frequently associated with severe PFV (53% vs. 25%; P = 0.01). Surgery was performed in 85 patients (89%). Of them, 69 (81%) had a total success, 5 (6%) had a partial success due to persistent limited peripheral retinal detachment (RD), and 11 (13%) had a failure due to persistent total RD after surgery. Postoperative adverse events occured in 38 eyes including ocular hypertension requiring eye drop medication (7.1%), secondary cell proliferation around the intraocular lens (8.2%), intravitreal hemorrhages (7.1%), and persistent tractional RD (10.6%). Second surgery was performed in 18 patients (21%). At last follow-up, VA could be measured in logarithm of the minimum angle of resolution in 43 children (45%), light perception in 21 eyes (22%), and no light perception or impossible to assess in 32 eyes (33%). CONCLUSIONS: In our case series, most patients presenting with posterior PFV received complex vitreoretinal surgery. Goals of the surgery vary and include retinal flattening, reduction of vitreoretinal traction, freeing of visual axis, and aesthetic concerns. We propose a surgical and medical management algorithm for PFV. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

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

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