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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. [ABSTRACT FROM AUTHOR]

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). [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Persistent fetal vasculature (PFV) syndrome is characterized by abnormal regression of the fetal hyaloid system and may occur in various forms. In this report, two atypical cases associated with posterior capsular defect and ectopic lens material located along Cloquet's canal are discussed. Ultrasonography of these patients presenting with bilateral total cataracts revealed a hyaloidal stalk extending from the optic nerve head to the retrolental area. During lensectomy, it was observed that lens particles were moving anteriorly from the central mid-vitreous to the aspiration port and that the posterior capsule was developmentally defective. There was no pathological vascular remnant, rather the lens material partially filled Cloquet's canal through the opening in the posterior capsule and created a pseudo-stalk appearance on the preoperative ultrasonography. We aim to discuss possible mechanisms underlying these cases, which may help to improve our understanding of the PFV spectrum. [ABSTRACT FROM AUTHOR]

Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation. [ABSTRACT FROM AUTHOR]

Purpose: To study the complications and surgical outcomes of cataract surgery in patients of persistent fetal vasculature (PFV) with cataract. Methods: In this prospective study, phacoaspiration with/without intraocular lens implantation (IOL) was done in 20 children (mean age 14.2 months) with unilateral cataract with anterior (n = 6) or combined (n = 14) PFV. The rentrolental vascularized membrane was cauterized and dissected circumferentially, followed by cauterization and resection of the PFV stalk. The outcome measures included fixation preference using the CSM (central, steady, maintained) method and intraoperative and postoperative complications in an 18-month follow-up. The difference in outcomes of anterior and combined PFV, as well as aphakic and pseudophakic eyes, was studied. Results: CSM fixation was seen in 16 patients after 18 months. The intraocular lens was implanted in 16 eyes and 4 eyes with combined PFV were left aphakic. None of our patients had intraoperative bleeding. Visual axis obscuration was the major complication seen, requiring membranectomy in 8 children. Pupilloplasty was required with membranectomy in one eye. None of our patients developed glaucoma or retinal detachment. Conclusion: Timely surgical intervention and aggressive amblyopia therapy led to good visual results in our study. Poor prognosis was seen in combined PFV, aphakia, and microphthalmia. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Vitreous hemorrhage secondary to a complete persistent hyaloid artery is an uncommon anomaly. The case of a 65-year-old woman with a known personal history of this congenital anomaly in the right eye is presented, who had a sudden decrease in vision of that eye, ten days after presenting an acute febrile condition with a diagnosis of dengue. Posterior biomicroscopy revealed a persistent hyaloid artery filled with blood with insertion into the lens posterior portion or hyaloid fossa. In indirect funduscopy a partial vitreous hemorrhage was observed, which allowed visualizing the structures of the retina. Ocular ultrasound and retinophoto were performed as diagnostic and follow-up tests. The vitreous hemorrhage was completely reabsorbed at 15 days and the patient recovered her vision at 0.5 due to the presence of an ongoing cataract. There was no recurrence of bleeding in six months' follow-up. [ABSTRACT FROM AUTHOR]

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 β 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. [ABSTRACT FROM AUTHOR]

Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous, is a congenital developmental malformation of the eye, caused by the failure of involution of the primary vitreous and hyaloid vasculature. The severity of the disease may vary depending on the affected intraocular structures and anatomical variations, and the broad spectrum of clinical presentations makes PFV challenging for surgical management. The proper selection of surgical techniques is critical to prevent complications and achieve favorable outcomes and highly depends on knowledge of the type, location, and extent of the disease. The aim of this work is to describe the clinical, anatomical features and variations of PFV, as well as to review the principles and pearls for successful surgical management in the current literature and our clinical experience. [ABSTRACT FROM AUTHOR]

Abstract To identify imaging characteristics of mouse persistent hyperplastic primary vitreous (PHPV) by Spectralis Optical Coherence Tomography (OCT), as well as to assess and compare the sensitivity and precision of OCT with color photography (CP) and Fundus Fluorescein Angiography (FFA) imaging in detecting mouse PHPV. Notch4 −/− C57BL/6J mice (224 eyes) aged from 3 months to 7 months were examined in this study. CP, FFA and OCT imaging were utilized to examine vitreous cavity and retina of mouse eyes. Horizontal and radial OCT scan volume was centered on the optic nerve head. Hematoxylin and eosin (H&E) staining was performed to validate PHPV. For color photography and FFA imaging, retrolental irregular fibrovascular membrane-like tissues were found in 33 eyes with/without blood vessels in vitreous cavity. Among them, 31 eyes were visualized with lateral and oblique linear hyperreflective opacities in vitreous cavity using Spectralis OCT. Position of PHPV in posterior segment of eyes was also measured via OCT. Mouse PHPV was validated by H&E staining. Typical hyperreflective opacities in vitreous cavity were detected in PHPV mouse using Spectralis OCT. Spectralis OCT imaging can effectively detect mouse PHPV as color photography and FFA. [ABSTRACT FROM AUTHOR]

Background: Oculo-palato-cerebral syndrome is an extremely rare condition characterized by various features, including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, persistent hyperplastic primary vitreous, microphthalmia, small hands and feet, joint laxity, and large ears with thick helices. Diagnosis of this syndrome is based on the clinical manifestations, particularly the presence of persistent hyperplastic primary vitreous in association with other malformations. Congenital chylothorax is also a rare condition in the neonatal period, which is caused by the abnormal accumulation of the lymphatic fluid within the pleural space. This condition may be detected prenatally or during the neonatal period. Case report: We presented the case of a patient with oculo-palato-cerebral syndrome and congenital chylothorax based on a literature review. Conclusion: Oculo-palato-cerebral syndrome and congenital chylothorax are both rare conditions. To the best of our knowledge, this was the first case report on congenital chylothorax in association with oculo-palato-cerebral syndrome in the available literature. Since there have only been five case reports on these patients, further evidence is required to confirm the possible association between these rare conditions. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the functional and anatomical outcomes following surgical management of persistent fetal vasculature (PFV).Methods: Single-center, retrospective, interventional consecutive case series of 41 patients (44 eyes) who underwent vitrectomy with or without lensectomy through a limbal or pars plana/plicata approach with diagnosis of anterior, posterior, or combined anterior and posterior segment PFV were included.Results: The median age at the time of surgery was 3 months (range, 1–36 months), and the mean follow-up period was 37.2 ± 38.1 months (range, 12–164 months). Of the 44 eyes, 5 (11%) had clinical and ultrasonographic findings of anterior PFV, 5 (11%) had posterior PFV, and 34 (78%) had components of both anterior and posterior disease. At the last visit, 38 eyes (87%) were aphakic, 5 eyes (11%) were phakic, and 1 eye (2%) was pseudophakic. The mean Snellen equivalent VA at the final visit for the 14 (32%) eyes with measurable VA was 20/283. Nine (20%) eyes had final VA of only light perception or no light perception. The remaining 21 (48%) eyes behaved consistently with form vision, but the patients were not able to report VA.Conclusions: Most of the eyes achieved at least form vision, with acceptable postoperative complication rates. Functional and anatomical outcomes are not strictly dependent on axial length, and microphthalmic eyes with mild posterior segment involvement have the potential for good visual results. Outcomes after surgery for posterior PFV associated with tractional retinal detachment are limited. Anatomical success does not always equate to functional improvement. [ABSTRACT FROM AUTHOR]

Purpose: To study the clinicopathological findings of Persistent Fetal Vasculature (PFV) in patients with congenital cataract and PFV.Methods: Six eyes with anterior or combined PFV with cataract underwent phacoaspiration with primary posterior capsulotomy with anterior vitrectomy with intraocular lens implantation followed by histopathological evaluation of the PFV stalk and membrane.Results: Four and two patients had combined and anterior PFV respectively. There was no postoperative hyphema, vitreous haemorrhage, glaucoma or retinal detachment in six months. Haematoxylin and eosin staining showed inflammatory cells predominantly with extramedullary hematopoeisis and vascularisation.Conclusion: We recommend IOL implantation in PFV, with early and aggressive amblyopia therapy. [ABSTRACT FROM AUTHOR]

Key Clinical Message Ultrasonography suggested the diagnosis of cataract associated with persistent fetal intraocular vasculature in a 26-day-old sambar deer. The deer was ill and died despite intense critical care. Globes were removed. Histological characteristics of persistent fetal vasculature and secondary cataract are reported expanding the knowledge of ophthalmic disorders in wild ungulates. [ABSTRACT FROM AUTHOR]

The 2015 Annual National Toxicology Program Satellite Symposium, entitled “Pathology Potpourri” was held in Minneapolis, Minnesota, at the American College of Veterinary Pathologists/American Society for Veterinary Clinical Pathology/Society of Toxicologic Pathology combined meeting. The goal of this symposium is to present and discuss diagnostic pathology challenges or nomenclature issues. Because of the combined meeting, both laboratory and domestic animal cases were presented. This article presents summaries of the speakers’ talks, including challenging diagnostic cases or nomenclature issues that were presented, along with select images that were used for audience voting and discussion. Some lesions and topics covered during the symposium included hepatocellular lesions, a proposed harmonized diagnostic approach to rat cardiomyopathy, crop milk in a bird, avian feeding accoutrement, heat exchanger in a tuna, metastasis of a tobacco carcinogen–induced pulmonary carcinoma, neurocytoma in a rat, pituicytoma in a rat, rodent mammary gland whole mounts, dog and rat alveolar macrophage ultrastructure, dog and rat pulmonary phospholipidosis, alveolar macrophage aggregation in a dog, degenerating yeast in a cat liver aspirate, myeloid leukemia in lymph node aspirates from a dog, Trypanosoma cruzi in a dog, solanum toxicity in a cow, bovine astrovirus, malignant microglial tumor, and nomenclature challenges from the Special Senses International Harmonization of Nomenclature and Diagnostic Criteria Organ Working Group. [ABSTRACT FROM AUTHOR]

Purpose To evaluate long-term clinical and functional outcomes after congenital cataract surgery in persistent fetal vasculature (PFV). Setting Department of Ophthalmology, Goethe-University, Frankfurt, Germany. Design Retrospective comparative case series. Methods The records of eyes with congenital cataract associated or not associated with PFV that had cataract surgery without intraocular lens (IOL) implantation within the first 18 months of life were reviewed. Long-term visual outcomes and clinical parameters, including aphakic glaucoma, posterior capsule opacification (PCO), vitreous and anterior segment hemorrhage, retinal detachment (RD), and fibrin reaction, were evaluated. Results Congenital cataract was associated with PFV in 19 eyes (19 children) and not associated in 69 eyes (40 children). Sixteen patients had isolated anterior PFV; 3 eyes were classified as combined anterior and posterior PFV. The mean follow-up was 53.21 months. Postoperative visual acuity improvement was recorded in 68.4% of PFV-associated cataract eyes with a corrected visual acuity up to 20/100. Long-term visual outcomes in PFV-associated cataract eyes were significantly worse than in the 11 unilateral cataract eyes without additional PFV ( P = .0067). The presence of PFV was strongly associated with a long-term increased risk for postoperative hemorrhage ( P = .0001) and RD ( P = .009) after primary cataract surgery and secondary IOL implantation. The prevalence of aphakic glaucoma, PCO, and fibrinous reaction was similar between PFV cataract eyes and controls. Conclusions In most cases of PFV-associated congenital cataract, postoperative visual acuity improvement is possible. However, congenital cataract eyes associated with PFV have a long-term increased risk for postoperative hemorrhage and RD. Financial Disclosure None of the authors has a financial or proprietary interest in any material or method mentioned. [ABSTRACT FROM AUTHOR]

Background Persistent fetal vasculature (PFV) is a human disease in which the fetal vasculature of the eye fails to regress normally. The fetal, or hyaloid, vasculature nourishes the lens and retina during ocular development, subsequently regressing after formation of the retinal vessels. PFV causes serious congenital pathologies and is responsible for as much as 5% of blindness in the United States. Scope of review The causes of PFV are poorly understood, however there are a number of animal models in which aspects of the disease are present. One such model results from mutation or elimination of the gene ( Cryba1 ) encoding βA3/A1-crystallin. In this review we focus on the possible mechanisms whereby loss of functional βA3/A1-crystallin might lead to PFV. Major conclusions Cryba1 is abundantly expressed in the lens, but is also expressed in certain other ocular cells, including astrocytes. In animal models lacking βA3/A1-crystallin, astrocyte numbers are increased and they migrate abnormally from the retina to ensheath the persistent hyaloid artery. Evidence is presented that the absence of functional βA3/A1-crystallin causes failure of the normal acidification of endolysosomal compartments in the astrocytes, leading to impairment of certain critical signaling pathways, including mTOR and Notch/STAT3. General significance The findings suggest that impaired endolysosomal signaling in ocular astrocytes can cause PFV disease, by adversely affecting the vascular remodeling processes essential to ocular development, including regression of the fetal vasculature. This article is part of a Special Issue entitled Crystallin Biochemistry in Health and Disease. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective The objective of this study was to describe the prevalences of primary noncongenital cataracts ( CAT) and persistent hyperplastic tunica vasculosa lentis ( PHTVL) in the German Pinscher population in Germany and to analyze the mode of inheritance of CAT in this dog breed. Animals studied All German Pinschers with a certified veterinary ophthalmological diagnosis and born between 1993 and 2010 were included in this study. Examinations were performed between 1997 and 2013 by certified veterinary ophthalmologists of the German panel of the European Eye Scheme for Diagnosis of Inherited Eye Diseases in Animals ( DOK). Procedures Data were reviewed retrospectively for the prevalence of PHTVL, and the prevalence, location and age at diagnosis of CAT. Inheritance of CAT was analyzed using the Singles Method. Results A total of 779 eye examination reports of 409 dogs were available. Primary noncongenital cataracts were diagnosed in 64 (15.6%), and PHTVL in 13 (3.2%) of the examined dogs. The pedigrees included 168 ophthalmologically examined dogs with 104 CAT-unaffected and 64 CAT-affected dogs. All affected animals were offspring of a frequently used stud-dog or closely related ancestors of this stud-dog. Simple segregation analysis revealed a recessive mode of inheritance for CAT. Conclusions An early onset form of CAT with various cortical, posterior polar or multiple locations was the most prevalent manifestation among close relatives in German Pinschers. The pedigree analysis indicated a hereditary component of cataract formation with a monogenic autosomal recessive pattern of inheritance. [ABSTRACT FROM AUTHOR]

In this study we investigated the changes of vitreoretinal interface by spectral optical coherence tomography (SOCT) of the retina in patients with high myopia. One hundred fourteen patients (220 eyes), aged from 43 to 68 years were classified in four groups according to the refraction and presence of posterior vitreous detachment (PVD); A group-high myopia and PVD; B group-high myopia without PVD; C group-emmetropia and PVD; D group-emmetropia without PVD. The patients were performed ultrasound examination on the UltraScan (Alcon) and SOCT on the SOCT Copernicus (Optopol). It was set that the thickness of retina in fovea in high myopia with PVD (219±3.2 μm) was significant more than in emmetropia with PVD (205±4.7 μm) (?<0.05). The thickness of retina in fovea in high myopia without PVD (208±2.7) was more than in emmetropia without PVD (193±3.9 μm) also (?<0.05). In high myopia with PVD was significantly more frequent distruction of a vitreous, foveoschisis, epiretinal membrane (ERM) and internal limiting membrane (ILM) detachment than in emmetropia with PVD (?<0.05). Statistically significant differences in the frequency of macular hole is not revealed in these groups (?=0.5364). In high myopia without PVD was significantly more frequent distruction of a vitreous and ERM than in emmetropia without PVD (?<0.05). There were no statistically significant differences in the frequency of foveoschisis and ILM detachment (p=0.2727). In our opinion, the retinal layers architectonics disorders, increasing thickness of retina and forming of the myopic foveoschisis, PVD in high myopia, there are preconditions for ILM detachment, which leads to gross destructive changes of the vitreoretinal interface. [ABSTRACT FROM AUTHOR]

Purpose To describe the clinical manifestations and treatment outcomes in a retrospective case series of morning glory syndrome (MGS) associated with persistent hyperplastic primary vitreous (PHPV). Methods The medical records of 85 eyes/74 patients referred for ophthalmology consultation diagnosed as MGS in our clinic were reviewed retrospectively. All patients underwent thorough ophthalmological examinations. 22 eyes of 19 patients diagnosed as having MGS associated with PHPV were included, accounting for 25.88% of all the MGS eyes. Clinical manifestations and management of these patients were documented. Results 15 patients (78.95%) were younger than 1 year old at the first diagnosis. Six eyes were associated with microphthalmia. 19 of 22 eyes (86.36%) had complications, including cataract (10 eyes), secondary glaucoma (8 eyes), corneal leucoma or oedema (8 eyes), retinal detachment (8 eyes), strabismus (3 eyes) and nystagmus (2 eyes). Treatment methods varied depending on the severity of the complications. Nine eyes with secondary glaucoma or cataract got lensectomy; three eyes underwent combined vitrectomy and lensectomy. Eight patients underwent cranial MRI/ MR angiography or CT examination. Widened cerebral fissures of bilateral temporal lobes, abnormal dilated branch of middle cerebral artery in the left hemisphere and abnormal signal in the grey matter of frontal and occipital lobes were revealed respectively in three patients. Conclusions Our study revealed the coexistence of PHPV in a significant percentage of patients with MGS, suggesting a potential common genetic link. Compared with MGS and PHPV alone, the combination of the two conditions manifested with higher incidence and more severe complications in younger patients. Close follow-up was recommended. Lensectomy and vitrectomy were beneficial in the management of the complications. [ABSTRACT FROM AUTHOR]

Purpose: To report the feasibility and outcome of lens aspiration, and Fugo blade-assisted capsulotomy and anterior vitrectomy in eyes with anterior persistent hyperplastic primary vitreous (PHPV). Materials and Methods: In this case series, 10 eyes of 10 patients with anterior PHPV underwent lens aspiration. The vascularized posterior capsule was cut with a Fugo blade (plasma knife) and removed with a vitrector. A foldable posterior chamber intraocular lens (IOL) was implanted in eight eyes and the outcomes were evaluated. Results: The mean age of patients was 16.8 ± 6.37 months (range: 5 to 28 months). The surgery was completed successfully in all eyes. There were no cases of intraocular hemorrhage intraoperatively. Foldable acrylic IOL was implanted in the bag in 3 eyes and in the sulcus in 5 eyes. Two eyes were microphthalmic and did no undergo IOL implantation (aphakic). None of the eyes had a significant reaction or elevated intraocular pressure postoperatively. The follow-up ranged from 4 to 21 months. All the pseudophakic eyes achieved a best corrected visual acuity of ≥ 20/200 with 50% (4/8) of these eyes with ≥ 20/60 vision. Conclusion: Lens aspiration followed by posterior capsulotomy with Fugo blade-assisted plasma ablation is a feasible technique for performing successful lens surgery in cases with florid anterior PHPV. [ABSTRACT FROM AUTHOR]

The objectives of this study were to define the clinical syndrome of retinal dysplasia and persistent primary vitreous in Miniature Schnauzer dogs and determine the etiology. We examined 106 Miniature Schnauzers using a biomicroscope and indirect ophthalmoscope. The anterior and posterior segments of affected dogs were photographed. Four enucleated eyes were examined using routine light microscopy and scanning electron microscopy. A pedigree was constructed and related dogs were test-bred to define the mode of inheritance of this syndrome. Congenital retinal dysplasia was confirmed in 24 of 106 related Miniature Schnauzer dogs. Physical and postmortem examinations revealed that congenital abnormalities were limited to the eyes. Biomicroscopic, indirect ophthalmoscopic, and neuro-ophthalmic examinations confirmed that some of these dogs were blind secondary to bilateral retinal dysplasia and detachment (nonattachment) (n = 13), and the remainder had generalized retinal dysplasia (n = 11). Fifteen of these dogs were also diagnosed with unilateral (n = 9) or bilateral (n = 6) persistent hyperplastic primary vitreous. Nutritional, infectious, or toxic etiologies were not evident on physical, postmortem, light microscopic, or transmitting and scanning electron microscopic examination of four affected Miniature Schnauzers. We examined the pedigree and determined that an autosomal recessive mode of inheritance was most likely. Three test-bred litters including those from affected parents, carrier and affected parents, and carrier parents confirmed this mode of inheritance. This study confirms that retinal dysplasia and persistent hyperplastic primary vitreous is a congenital abnormality that is inherited as an autosomal recessive condition in Miniature Schnauzers. [ABSTRACT FROM AUTHOR]

Persistent hyperplastic primary vitreous (PHPV) syndrome associated with either severe ocular complications or multiple ocular lesions was diagnosed in three young dogs, a Samoyed, a Spanish Pachon, and a mixed breed dog. Due to opacification of the anterior ocular structures, B-mode and color-flow Doppler ultrasonography were performed to aid diagnosis. The Samoyed presented with unilateral hyphema; the Spanish Pachon presented with unilateral secondary glaucoma associated with uveitis and hyphema OD and leucocoria OU; and the mixed breed presented with bilateral leucocoria. B-mode ultrasonography of the Samoyed revealed a subcapsular cataract and a hyperechoic tubular structure attached from the optic disk to the posterior lens capsule. In the Spanish Pachon B-mode ultrasonography of the right eye indicated microphakia, cataract formation, and a retrolental mass with a thin hyperechoic strand stretching from the optic disk to the posterior lens; and for the right eye cataract formation, PHPV, retinal detachment, and vitreous hemorrhage. In the mixed breed dog, B-mode ultrasonography of both eyes indicated microphthalmia, retrolental mass, and hyperechoic lenses. By color-flow Doppler imaging, blood flow was present in the retrolental mass of the right eye suggesting a persistent hyaloid artery. [ABSTRACT FROM AUTHOR]

Persistent hyperplastic primary vitreous (PHPV) is a disorder of ocular development which occurs due to incomplete regression of the embryonic vitreous and hyaloid vasculature. Most cases of PHPV are sporadic and unilateral. We report a case of PHPV in a 5-year-old male who presented with complaint of decreasing eye size. Grey-scale ultrasonography (US) evaluation revealed an hypoechogenic band in the posterior segment of the left globe extending from the posterior surface of the lens capsule to the optic disc. Also magnetic resonance imaging (MRI) findings suggested the diagnosis of persistent hyperplastic primary vitreous. [ABSTRACT FROM AUTHOR]

Bilateral persistent hyperplastic primary vitreous (PHPV) is a rare disorder of eye. It is one of the most important differential diagnoses of retinoblastoma, hence early and accurate diagnosis is important. We here report a case of an 11-month-old child which was referred to ocular OPD with complaints of bilateral leukocoria. Examination revealed greyish-white masses posterior to both lenses, raising the clinical suspicion of retinoblastoma. Ultrasonography demonstrated echogenic masses extending from the posterior surface of the lens to the optic disc with reduced axial lengths. These masses demonstrated flow on color Doppler evaluation. CT scan revealed hyperdense masses behind the lens without any evidence of intralesional calcification. Clinical features and imaging findings point towards the diagnosis of bilateral PHPV. PHPV is a developmental disorder of the globe in which the hyaloid vasculature fails to regress normally. While unilateral PHPV is common, bilateral PHPV is a rare entity. It is one of the most important conditions mimicking retinoblastoma; hence early and accurate diagnosis is required. Ophthalmological examination is still the best way to confirm the diagnosis. However, if the diagnosis remain unclear, further evaluation using ultrasonography, Color Doppler, and CT scan is useful. [ABSTRACT FROM AUTHOR]

The article presents a case report on the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to diagnosis of bilateral persistent hyperblastic primary vitreous (PHPV) in a fetus at 23 weeks' gestation. The case presented is the first to describe fetal PHPV by prenatal sonographic eye examination, in which postmortem fetal eye histological examination confirmed the diagnosis.

Coumarin embryopathy (CE) is a well-documented sequelae of prenatal exposure to vitamin K antagonists. We report on a female premature infant (25 weeks' gestation) born to a mother who had received phenprocoumon during pregnancy following mechanical heart valve replacement. The infant presented with impaired coagulation, intraventricular and minor parenchymal cerebral haemorrhages and midface hypoplasia typical of CE. In addition, there was hepatopathy with conjugated hyperbilirubinemia, elevated liver enzymes and repeated episodes of hypoglycemia upon attempts to discontinue glucose supplementation, all lasting for 4 months. There was corneal opacity with anterior segment dygenesis in the left eye, and persistent pupillary membrane, cataract and persistent hyperplastic primary vitreous in the right eye. While liver disease is an uncommon but serious side effect of vitamin K antagonists, this is the first report describing neonatal hepatopathy as part of CE. In anticoagulation of pregnant women with mechanical heart valves, vitamin K antagonists should be used with utmost restraint. [ABSTRACT FROM AUTHOR]

We report a case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 5-month-old infant who presented with bilateral leukokoria. The child was referred for occular ultrasound with a clinical suspicion of retinoblastoma. Grey-scale evaluation revealed an echogenic band in the posterior segment of the left globe extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of blood flow in the band. Ultrasound assessment of the contralateral globe showed an elevated mass of echogenic tissue in the posterior segment, in contact with the optic disc. Most cases of PHPV are sporadic and unilateral. Bilateral PHPV is rare. In a study by Pollard of 83 cases, only two patients (2.4%) had bilateral PHPV. The imaging features in this case point toward the diagnosis of bilateral PHPV. We suggest that this entity, although rare, should be considered in the differential diagnosis while evaluating bilateral leukokoria. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 23‑year‑old male presented for a second opinion about an area of suspected spontaneous posterior capsular rupture (PCR) in the right eye. Patient does not have history of ocular trauma or incisional ocular surgery. The article discusses use of the anterior segment optical coherence tomography (ASOCT) in the ophthalmic surgery.

Persistent Hyperplastic Primary Vitreous (PHPV), now-a-days referred to as Persistent Fetal Vasculature (PFV), is a rare congenital anomaly of the eye that typically presents unilaterally with white pupillary reflex and microphthalmia without systemic associations. Bilateral presentations are rare. Here we report a case of 15-year-old male with bilateral PFV without leucokoria who was misdiagnosed as congenital esotropia with amblyopia, treated for refractive errors and referred to higher centre for squint corrections. The diagnosis of PFV was made easily on slit lamp examination with dilated pupil due to media clarity. Findings were confirmed by colour doppler ultrasonography of the eyes. This case warrants essential screening of the posterior segment of all children with deviated eyes to ensure earliest detection of such pathologies. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding a case study of a 10-month-old child diagnosed with persistent fetal vasculature (PFV) and was treated with cataract surgery.

A 66-year-old woman was referred for evaluation of retinal vessel abnormality. She had no visual symptoms.The anterior segment showed a retrolental opacity in her right eye. Fundus examination showed a bilateral prepapillary vascular loop associated with PHPV in her right eye. Prepapillary vascular loops were present in both eyes, although they were much more prominent in the right eye. To our knowledge, there are no reports of prepapillary vascular loops associated with PHPV. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented discussing the case of a 6-year-old girl with retinal cavernous hemangioma and persistent fetal vasculature (PFV).