Untreated combined persistent fetal vasculature with "coralliform" cataract in a Hispanic 21 year-old male.

Persistent fetal vasculature is a spectrum of ocular abnormalities linked to an incomplete regression of the fetal ocular vasculature. A 21-years old male patient came to the outpatient clinic reporting low vision and strabismus in his left eye since 3 years of age. Ophtalmological examination revealed a normal right eye, while the left eye had a best corrected visual acuity of hand-motion perception, a 30 prism diopters esotropia, a "coralliform" cataract and a vitreous stalk joining the posterior face of the lens and the optic nerve. The coralliform cataract possessed spindle-shaped processes radiating out of its center in an axial direction and was located in the posterior subcapsular area. The patient elected to not undergo vitreoretinal surgery due to the poor visual prognosis. The unusual cataract present in the described patient could be related to his untreated status, as previous authors have reported that untreated cataracts in persistent fetal vasculature may undergo diverse degenerations.

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.

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.

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.

Surgical outcomes of posterior persistent fetal vasculature syndrome: cases with tent-shaped and closed funnel-shaped retinal detachment.

BACKGROUND/OBJECTIVES: To determine the role of vitreoretinal surgery (VRS) for two different forms of posterior persistent fetal vasculature syndrome (PFVS); with tent-shaped tractional retinal detachment (TRD) and closed funnel-shaped TRD. SUBJECTS/METHODS: Retrospective, single surgeon, consecutive case series of 52 eyes of 44 patients with posterior PFVS who underwent VRS. Cases were divided into "tent-shaped TRD" and "funnel-shaped TRD" groups based on the preoperative TRD configuration. Associated anomalies, functional and anatomical outcomes were evaluated. The cosmetic appearance was defined as poor if there was phthisis bulbi, gross buphthalmos, or corneal opacification; acceptable if there was apparent leukocoria; and excellent if none were noted at the last follow-up. RESULTS: Thirty eyes of 29 patients presented with tent-shaped TRD; 70% of which obtained counting fingers or better vision and 90% showed significant reversal of tenting achieving retinal reattachment. The cosmetic appearance was excellent in 87%. Two eyes (7%) became phthisic. Twenty-two eyes of 15 patients presented with funnel-shaped TRD and leukocoria; 45% achieved LP vision and 70% of patients with bilateral pathology had LP in at least one eye. The cosmetic appearance was acceptable to excellent in 73%. Three eyes (14%) became phthisic, one (5%) of which required enucleation. The median follow-up time was 16 (6-71) months. CONCLUSIONS: VRS often provides functional vision and anatomy in posterior PFVS with tent-shaped TRD morphology. In the funnel-shaped TRD morphology, where no treatment has historically been recommended, surgery may be considered with an aim of restoring light perception and globe preservation, particularly in bilateral cases.

Case report: tuberous sclerosis and persistent hyperplastic primary vitreous.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in 1999. Otherwise, there is no literature around this potential association. We describe a case of an infant with TS and PHPV. CASE PRESENTATION: An 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment. CONCLUSIONS: This is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.

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.

Femtosecond laser-assisted anterior and posterior capsulotomies in children with persistent hyperplastic primary vitreous.

Anterior and posterior capsulotomies were performed in 12 eyes of 12 patients (age range 3 months to 6 years) with congenital cataracts and primary persistent hyperplastic primary vitreous (PHPV) syndrome using a femtosecond laser. The procedure was performed in 8 eyes with PHPV severity level 1 and 4 eyes with severity level 2 (Sudovsky classification). Surgeries were performed at the Kaluga branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Russia. Postoperative follow-up was between 8 months and 36 months. The use of a low-energy femtosecond laser-assisted posterior capsulotomy in this pediatric population provided safe and predictable results with a reduced number of intraocular manipulations, and reduced the risk for complications.

Congenital corneal blood staining secondary to hemorrhagic persistent fetal vasculature.

An African American girl born at 37 weeks via spontaneous vaginal delivery to a 33-year-old woman was noted on delivery to have a unilateral absent red reflex in the right eye, which was enlarged. Intraocular pressure was elevated, and the cornea had a straw-colored opacity. B-scan ultrasonography of the right eye showed diffuse hyperechoic vitreous opacities and a retrolental mass, with a hyperechoic band stretching from the optic disk to the posterior lens. Neuroimaging showed a unilateral enlarged globe, intraocular hemorrhage, and persistent fetal vasculature, with no other intracranial pathology. An anterior chamber washout revealed liquified blood; the presence of corneal blood staining was confirmed. A spontaneous intraocular hemorrhage associated with persistent fetal vasculature was suspected, leading to secondary glaucoma and corneal blood staining.

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.

Evaluation of collagen derived antiangiogenic factors and matrix metalloproteinases in anterior lens epithelial cells of pediatric eyes with persistent fetal vasculature.

Purpose: To measure levels of collagen-derived antiangiogenic factors (arresten, canstatin, tumstatin, endostatin) and matrix metalloproteinases (MMP-2 and MMP-9) in anterior lens epithelial cells (LECs) and anterior capsules of children with cataract and persistent fetal vasculature (PFV) as cases and cataract without PFV as controls. Methods: Anterior capsules harboring LECs were collected from pediatric cataract patients with (n = 13) and without PFV (n = 13) during surgery. Samples were immediately subjected to RNA extraction and cDNA preparation. Quantitative real time PCR was performed to determine the mRNA levels of antiangiogenic factors and matrix metalloproteinases. GAPDH (Glyceraldehyde 3-Phosphate Dehydrogenase) and ß Actin were used as the housekeeping control. The mRNA levels were expressed as a ratio, using the delta-delta method for comparing the relative expression results between controls and cases. The non-parametric Mann-Whitney U test was applied for statistical evaluation. P values < 0.05 were statistically significant. Results: The relative mRNA levels of arresten, canstatin, tumstatin, endostatin, MMP-2 and MMP-9 in cases were 6.20E-03 ± 0.003, 1.49E-01 ± 0.02, 1.70E-01 ± 0.007, 3.20E-03 ± 0.003, 1.11E-03 ± 0.0009 and 3.72E-04 ± 0.0001. The mRNA levels of arresten was 1.6 times lower (P = 0.01) while mRNA levels of MMP-2, tumstatin and canstatin were 4, 2.5, and 2.3 times higher in cases than in controls. No change was observed in mRNA levels of MMP-9 and endostatin (P = 0.82). Conclusion: A significant difference in the levels of arresten, canstatin, tumstatin, and MMP-2 was found in LECs with PFV.

OCT angiography of persistent hyaloid artery: a case report.

BACKGROUND: A persistent hyaloid artery is a rare fetal remnant. Several complications such as amblyopia, vitreous hemorrhage, and retinal detachment have been reported. Here, we present a case of vitreous hemorrhage with a persistent hyaloid artery. CASE PRESENTATION: A healthy 16-year-old male presented with blurred vision in his left eye. Vitreous hemorrhage occurred and absorbed spontaneously. Slit-lamp examination demonstrated a Mittendorf's dot and fundus examination revealed a persistent hyaloid artery. Optical coherence tomography (OCT) showed a Bergmeister's papilla. The blood flow of the persistent hyaloid artery via the Bergmeister's papilla was found by OCT angiography. CONCLUSION: The persistent hyaloid artery should be considered as a cause of spontaneous vitreous hemorrhage of young healthy patient. The OCT angiography will be a useful noninvasive approach to confirm the patency of the persistent hyaloid artery.