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.

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.

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.

Diagnostic accuracy of Quantitative Colour Doppler Flow imaging in distinguishing Persistent Fetal Vasculature from Retinal Detachment.

PURPOSE: Distinguishing posterior persistent fetal vasculature (PFV) from retinal detachment (RD) may be very challenging clinically and ultrasonographically, as they share common morphological features. However, it is crucial, considering their substantially distinct management and treatment. We aimed to assess the relevance of quantitative colour Doppler flow imaging to distinguish PFV from RD in children. METHODS: This retrospective bi-centre study included 66 children (30 females and 36 males, mean age: 244 ± 257 days) with a clinically suspected diagnosis of RD or posterior PFV. All children underwent systematic and standardized conventional ultrasonography and colour Doppler flow imaging under general anaesthesia with a qualitative and quantitative analysis of the retrolental tissue's vascularization. Peak systolic velocity, end-diastolic velocity and resistive index were recorded for analysis. Whenever available, surgical findings were deemed gold standard for diagnosis. A Mann-Whitney U-test was used to compare quantitative colour Doppler flow imaging data. RESULTS: Peak systolic velocity and end-diastolic velocity were significantly lower in children with PFV versus RD: 2.7 (IQR: 0.5) versus 5.1 (IQR: 2.8), p < 0.001, and 0.0 (IQR: 0.0) versus 2.0 (IQR: 1.2), p < 0.001, respectively. Resistive index was significantly higher in children with PFV versus RD: 1 (IQR: 0) versus 0.6 (IQR: 0.1), p < 0.001. Area under curves (AUCs) were of 0.94, 0.99 and 1, respectively. No differences between PFV and RD were observed on structural ultrasound or qualitative analysis of colour Doppler. CONCLUSION: Quantitative colour Doppler flow imaging has an excellent accuracy in distinguishing PFV from RD in children. It may help to improve management and treatment.

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.

Membrana glial epipapilar bilateral en la papila de Bergmeister. Hallazgos tomográficos / Bilateral epipapillary glial membrane in Bergmeister's papilla. Tomographic findings

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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.

Arteria hialoidea persistente / Persistent hyaloid artery

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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.

Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia. / Vasculatura fetal persistente unilateral asociada a disgenesia del segmento anterior.

CASE REPORT: A case is presented of a 4 week-old female neonate with Peters anomaly (PA) and unilateral persistent foetal vasculature (PFV) referred to our centre due to esotropia. At 12 weeks of age, a penetrating keratoplasty and vitrectomy were performed without major complications in the immediate post-operative period. The patient is currently under an intensive treatment for amblyopia and secondary glaucoma. DISCUSSION: Surgical treatment of PFV is controversial, with prevention of amblyopia, phthisis, and glaucoma being the main reasons for it. Patients with unilateral PFV and type II PA could be good candidates for this combined surgical procedure.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.