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.

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.

Persistência da vasculatura fetal diagnosticada pela ultrassonografia ­ Relato de caso / Vasculature persistence fetal diagnosed by ultrasound ­ case report

Contexto: A persistência da vasculatura fetal é uma malformação ocular rara em adultos, habitualmente unilateral, sendo uma condição não hereditária, com poucas manifestações sistêmicas e neurológicas. Descrição do caso: Homem de 45 anos queixando-se de dor no olho esquerdo, com pressão intraocular de 56 mmHg. A ultrassonografia do olho esquerdo demonstra aumento da ecogenicidade do cristalino inferindo catarata e redução da amplitude da câmara anterior, membrana posterior hiperecogênica no interior da câmara vítrea com intensa vascularização com fluxo arterial ao estudo com Doppler, caracterizando a persistência da vasculatura fetal. O paciente recebeu tratamento por três dias. Com a redução da pressão intraocular após esse período, realizou a cirurgia combinada de facoemulsificação com implante de lio e implante de tubo de Ahmed. Após o procedimento cirúrgico, o paciente não voltou a apresentar a sintomatologia. Discussão: Clinicamente, há duas condições de doença, dependendo da porção atingida do vítreo primário ­ as formas anterior e posterior. A persistência da vasculatura fetal não tratada frequentemente progride para phthisis bulbi ou enucleação devido a uma hemorragia intraocular recorrente e secundária ao glaucoma. Os esforços cirúrgicos têm o intuito de preservar a visão. Conclusão: Relatamos um caso de persistência da vasculatura fetal diagnosticado pela ultrassonografia e tratado cirurgicamente com sucesso devido ao alívio dos sintomas em olho esquerdo sem percepção luminosa.

Atypical presentation of peripheral posterior lenticonus and role of multi-modal ocular imaging in its diagnosis and management.

A 6-year-old systemically healthy child presented with visual acuity of 1/60, N18 oculusdextrus (OD), and 6/18, N6 oculus sinister (OS). Slit-lamp biomicroscopy revealed suspicious bilateral inferotemporal pigmented ciliary body (CB) tumour, protruding posterior capsule and temporal posterior subcapsular cataract oculus uterque. Anterior segment optical coherence tomography, ultrasonography, ultrasonic biomicroscopy and Scheimpflug imaging revealed protruding posterior capsule and cortex abutting but not arising from CB suggestive of peripheral pigmented posterior lenticonus with hypermetropia (axial length 20.27 mm OD and 19.97 mm OS). Aberrometry revealed high internal aberrations and low Dysfunctional Lens Index (DLI). Lens aspiration with intraocular lens implantation in the bag OD and contact lens correction OS were undertaken. The child had a postoperative visual gain of 3/60, N18 with improved aberrometric profile OD, and was advised amblyopia therapy. Rarely posterior lenticonus can mimic a CB mass. Multi-modal ocular imaging can aid in its diagnosis and management. DLI may serve as a useful indicator of surgery in such cases.

Persistent fetal vasculature presenting with axial elongation and platyphakia.

Leukocoria in children should always raise the concern for retinoblastoma. However, a variety of non-neoplastic conditions can also present with leukocoria, including persistent fetal vasculature (PFV), a nonhereditary, congenital anomaly caused by a failure of the fetal intraocular vasculature to regress during development. Classically PFV presents with features that make it easily distinguishable from retinoblastoma, including microphthalmia, retrolental fibrovascular membrane, central dragging of ciliary processes, and cataract. We present an atypical case of PFV in a 9-month-old boy who presented with the unusual features of axial myopia and platyphakia.

Intraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog.

This case report describes the clinical findings and ocular pathology in an adult Golden Retriever diagnosed with an intraocular sarcoma. Nineteen s prior to diagnosis with a lens capsule rupture and intraocular sarcoma, the dog was diagnosed with persistent hyperplastic primary vitreous and uveitis based on clinical signs and the ultrasonographic appearance of the eye. Two years after enucleation, there was no evidence of metastatic spread of the sarcoma. The immunohistochemical characteristics of the tumor as well as the limitations and supportive evidence used in attempting to identify the histogenesis of the tumor are outlined.

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 was an echogenic band in the posterior segment of both eyes which connected the posterior surface of the lens capsule to the optic disc. Colour Doppler revealed the presence of vascularity in the band along its entire length. No calcification or mass lesion was seen. These findings are diagnostic of PFV. Most cases of PFV are unilateral and sporadic in nature and closely mimic retinoblastoma. Although rare, PFV should be considered in the differential diagnosis when examining a case of bilateral leukocoria. Paediatricians should be aware of this rare but serious entity.

Ophthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report.

The purpose is to document a case of persistent hiperplastic primary vitreous (PHPV) with atypical Bergmeister's papilla and patent hialoid artery that had its conclusive diagnosis done by doppler ultrasound. We report a case of child, who had unilateral leucokoria. This child's fundoscopic examination showed a white mass on the optic nerve that extended over to adjacent retina. Performed ultrasound that remained a doubt with the following diagnostic hypotheses: persistent hiperplastic primary vitreous, granuloma (toxocara), astrocytic hamartoma and retinoblastoma. The diagnosis was only established when the doppler ultrasound showed a blood flow inside of the membrane, thus confirming the diagnosis of persistent hiperplastic primary vitreous associated with the Bergmeister'spapilla.

Malignant teratoid medulloepithelioma with retinoblastic and rhabdomyoblastic differentiation.

We describe an unusual case of malignant teratoid medulloepithelioma in which distinct populations of tumor cells with different immunohistochemical staining patterns existed within the same eye. A neuroblastic population exhibited atypical features of retinoblastoma, including organization into pseudo-Flexner-Wintersteiner and Homer-Wright rosettes. Other populations evolved in strikingly different patterns, with large fields of cells resembling astrocytes and intervening streams of spindle cells that suggested smooth muscle. The spindle cell population was negative for smooth muscle antigen but stained positively for desmin, myoglobin, and myogenin. Under high magnification, the desmin, myoglobin, and myogenin-staining cells exhibited striations consistent with skeletal muscle differentiation.

Color Doppler imaging of eyes with persistent fetal vasculature.

BACKGROUND: Eyes with persistent fetal vasculature (PFV) may be mistaken for retinoblastoma and provide a diagnostic challenge. OBJECTIVE: This study aimed to evaluate the role of color Doppler imaging (CDI) in children with persistent fetal vasculature. MATERIALS AND METHODS: Eyes with a diagnosis of PFV were evaluated by CDI. RESULTS: Twenty eyes of 17 children were included. All had a confirmed diagnosis of PFV based on one or more of the following: clinical findings on funduscopy, characteristic findings on imaging modalities (ophthalmic gray-scale US, CT and/or MRI), typical findings observed intraoperatively, and histopathological analysis (after enucleation in one case). Blood flow within the PFV was demonstrated in 19 eyes in this series. CONCLUSION: CDI is a noninvasive diagnostic tool that may add useful information on the presence of blood flow within the PFV and may substantiate the diagnosis of PFV in cases of uncertainty.

Prenatal ultrasonographic detection of ophthalmic diseases.

Four patients with prenatal sonographic findings suggestive of ophthalmic pathology were detected in utero. The definitive diagnoses of infantile fibrosarcoma, persistent hyperplastic primary vitreous/persistent fetal vasculature, Fraser syndrome, and microphthalmia with coloboma and retrobulbar cyst were made postnatally. High-resolution intrauterine sonograms expedited ophthalmic referral and influenced prenatal planning.

[Complex ultrasound examination children with persisting hyperplastic primary vitreous].

Complex ultrasound examination was performed in 108 children with unilateral congenital cataract (UCC) and persisting hyperplastic primary vitreous syndrome (PHPVS) to reveal indications and contraindications for surgery. The presence of functioning vessels with linear blood flow velocity (LBFV) measurement was performed in fibrovascular band and retrolenticular membrane (RLM) in different stages of PHPVS using color Doppler and energetic mapping. The echographic density of fibrovascular band and RLM was estimated using echodensitometry. The results of the study showed correlation of PHPVS severity and fibrovascular band diameter, LBFV in the vessels of the band and echographic density of the band, RLM and their thickness as well.

A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.

BACKGROUND: Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV). MATERIALS AND METHODS: Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed. RESULTS: A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level. CONCLUSION: We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.

Bilateral persistent hyperplastic primary vitreous.

A case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

Uncommon cause of juvenile cataract: adenoma of the nonpigmented ciliary epithelium.

Adenoma of the nonpigmented ciliary epithelium developed in a 36-year-old woman, causing decreased visual acuity and a total cataract in the involved eye. Ultrasound biomicroscopy disclosed associated persistent hyperplasic primary vitreous (PHPV). Sectoral cyclectomy with removal of the mass and intracapsular cataract extraction were performed, and the tumor was submitted for histological examination. Although ciliary adenomas arising in adults are considered to be acquired, the associated PHPV suggests a congenital origin in view of the tumor's possible interference in the normal replacement of the primary vitreous by the secondary vitreous.

Risk factors for complications after congenital cataract surgery without intraocular lens implantation in the first 18 months of life.

PURPOSE: To determine individual risk factors for the development of postoperative complications after pediatric cataract surgery in the first 18 months of life. DESIGN: Interventional, consecutive case series. METHODS: We retrospectively reviewed the records of 71 eyes of 46 children who underwent surgery for congenital cataract within the first 18 months of life. A limbal approach bimanual lens aspiration, posterior capsulorrhexis, and anterior vitrectomy without intraocular lens implantation was performed in all children. We examined the interrelationships of operative and postoperative complications with other variables such as patient age, family history, or ocular abnormalities. The mean follow-up period was 39 months. RESULTS: The most frequent postoperative complications were late-onset open-angle glaucoma (10.8%) and vitreous hemorrhage (10.8%), whereas early-onset glaucoma (4.6%) was less common. Secondary cataract was observed in seven eyes (9.2%). We determined a family history of aphakic glaucoma in first-degree relatives (P = .007) as well as cataract surgery in the first three months of life (P = .039) and nuclear cataracts (P = .0009) to be strong predictors of late-onset glaucoma. Secondary cataract formation was associated strongly with lensectomy in the first five months of life. The diagnosis of postoperative hemorrhages was associated significantly with the presence of persistent fetal vasculature (P < .0001). CONCLUSIONS: Patients with preoperative predictors at presentation such as young age at the time of surgery, a family history of aphakic glaucoma, nuclear cataract, or persistent fetal vasculature syndrome offer a clear target for extensive postoperative care after congenital cataract surgery.