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.

Regression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature. Here we report a case of nonsurgical unilateral anterior PHPV that was managed by amblyopia treatment and resulted in an improvement of visual acuity and regression of the fetal vasculature. CASE PRESENTATION: A three-year-old girl was diagnosed with unilateral anterior PHPV in the left eye, manifested with posterior pole cataract, posterior capsule opacification, tunica vasculosa lentis, and a floating hyaloid artery connected to the retrolental mass. The plaque was not large enough to fill the pupil, and conservative management along with amblyopia treatment was conducted. Nineteen months later, the visual acuity in the affected eye improved from 20/100 to 20/50 with correction, and the fetal vasculature regressed gradually and finally into a nonperfusion ghost vessel. CONCLUSIONS: In PHPV-affected children, regression of the fetal vasculature may be observed, and conservative management and amblyopia treatment may be helpful for visual improvement.

Management of severe persistent fetal vasculature: case series and review of the literature.

PURPOSE: Persistent fetal vasculature (PFV) is a unique ocular disorder usually presenting early in life. The unregressed embryonal hyaloid vasculature poses a risk of severe ocular complications leading to decreased visual acuity. Surgery is the mainstay of therapy in complicated cases. We describe the clinical presentation and surgical treatment of PFV managed at our center from 2012 to 2015. METHODS: The study is a case series comprised eight patients who were diagnosed with complicated severe PFV. All were managed with a tailored surgical approach. The clinical characteristics, medical and surgical treatment, and follow-up findings of each case are described. RESULTS: There were six males and two females. Surgical intervention involved anterior or posterior vitrectomy, lens extraction, and intraocular lens implantation. Hyaloid stalk removal with release of ciliary traction was variably utilized in selected cases. Endodiathermy controlled intraocular bleeding, and intraocular scissors proved helpful in anterior PFV for disinserting the ciliary process from an abnormally thickened posterior lens capsule. Visual outcomes differed in each case, depending on multiple clinical factors. CONCLUSION: Severe complex PFV presents a therapeutic challenge. A tailored surgical approach with meticulous postoperative management is essential for visual rehabilitation.

[Morphological features of clinical manifestations of particular congenital lens and vitreous anomalies]. / Morfologicheskie osobennosti klinicheskikh proiavleniĭ nekotorykh vidov vrozhdennykh anomaliĭ khrustalika i steklovidnogo tela.

The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present. According to the authors, their analysis helps justify the use of digital three-dimensional ultrasound examination for intravital evaluation of congenital changes in the lens and vitreous.

Combined Persistent Fetal Vasculature: A Classification Based on High-Resolution B-Mode Ultrasound and Color Doppler Imaging.

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.

[Embryological aspects of clinical presentations of congenital lens and vitreous anomalies]. / Émbriologicheskie aspekty klinicheskikh proiavlenii vrozhdennykh izmenenii khrustalika i steklovidnogo tela.

This report gives a general overview of embryological features of the human eye. Key literature sources published during the last century on evaluation of congenital changes in the vitreous body and identification of signs of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed in terms of general pathology of the human body as well as local morphological manifestations. According to the authors, such an approach justifies the need for comparison of clinical manifestations of congenital lens and vitreous changes with possible embryonic defects.

Unilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit.

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.

Case 206: persistent hypertrophic primary vitreous.

History This patient was a 20-month-old full-term girl who had not received any routine pediatric care. During a physical examination, left-sided leukocoria was detected. Subsequently, a left-sided cataract was diagnosed. The patient was sent for magnetic resonance (MR) imaging of the brain and orbits.

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.

Congenital optic disc cyst concomitant with persistent hyaloid artery--a case report.

The aim is to present a rare case of solitary malformation in the form of a congenital optic disc cyst concomitant with the persistent hyaloid artery. The intrabulbar congenital cyst of the optic disc partially covering the medial part of the disc was found in a 3-month old infant. B-San ultrasound confirmed the presence of the intrabulbar heterogeneous mass (7.0 x 2.5 x 5.4 mm) within the vitreous cavity and the concomitant persistent hyaloid artery was shown in Colour Doppler Imaging. The axial length of the involved eye was shorter than of the healthy one (16.68 mm vs. 18.42 mm). The magnetic resonance imaging of the head and orbits performed in the fast spin echo, spin echo and gradient echo sequences in T1 and T2-weighted scans revealed the intrabulbar cyst (7.0 x 2.5 x 6.4 mm), with sharp margins, whose lower part showed intense contrast enhancement. The pericerebral fluid spaces within the frontal and temporal lobes were dilated. Intrauterine toxoplasmosis, cytomegaly, protozoan and helminth infections as well as metabolic diseases were excluded. Patient leukocyte DNA RB1 gene sequencing and negative results of mutation searching excluded retinoblastoma. In a 2-year follow-up period, regression of the mass with the absence of ophthalmic complications was noted. An important reason for the authors to present the discussed case is possible permanent impairment of visual function in patients with similar presentation of congenital peripapillary lesions. congenital optic disc cyst, developmental anomalies of the optic disc, congenital ocular malformations.

[Morphological and functional features of vitreous].

The structure of vitreous is discussed in the article. Its morphologic characteristics are described with consideration of topography and structural features. General vitreous anatomy and its distinct compartments are highlighted. Native and foreign literature concerning biological, biochemical and biophysical properties is analyzed. The value of vitreous developmental and structural features in pathogenesis of some pathologic conditions is estimated The parameters of distinct analyzed characteristics essential to form spatial sonographic image are shown.

[Familial exudative vitreoretinopathy].

Familial exudative vitreoretinopathy (FEVR) is a progressive hereditary retinal vascular disorder of unknown etiology. The disease is associated with gene mutation and mainly has an autosomal dominant mode of inheritance. Pathogenesis of the disease consists in abnormal retinal peripheral vasculogenesis. Three classifications, detailed clinical presentation and differential diagnostic criteria of the disease are presented. Surgical options of treatment of potential retinal detachment are discussed.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature osteoarthritis, congenital high myopia and blindness through retinal detachment. Although the systemic phenotype is highly variable, the vitreous phenotype has been used successfully to differentiate between patients with mutations in these different genes. Mutations in COL2A1 usually result in a congenital membranous vitreous anomaly. In contrast mutations in COL11A1 result in a different vitreous phenotype where the lamellae have an irregular and beaded appearance. However, it is now apparent that a new sub-group of COL2A1 mutations is emerging that result in a different phenotype with a hypoplastic vitreous that fills the posterior chamber of the eye, and is either optically empty or has sparse irregular lamellae. Here we characterise a further 89 families with Stickler syndrome or a type II collagenopathy, and correlate the mutations with the vitreous phenotype. We have identified 57 novel mutations including missense changes in both COL2A1 and COL11A1 and have also detected two cases of complete COL2A1 gene deletions using MLPA.

Vitreoretinal dysplasia masquerading as Peters' anomaly.

PURPOSE: Vitreoretinal dysplasia is characterized by a congenital bilateral nonattachment of the retina. In some cases, anteroposition of the iris and lens can lead to corneolenticular contact and corneal opacity, masquerading as Peters' anomaly. We report 3 cases of vitreoretinal dysplasia initially diagnosed as Peters' anomaly. METHODS: Case report. RESULTS: Case 1: In a 3-year-old boy with bilateral corneal opacities, high frequency ultrasound showed iridolenticular adherences as in Peters' anomaly, but color Doppler imaging of the posterior pole revealed a bilateral total retinal detachment. Case 2: In an 18-month-old boy with bilateral corneal opacity and dense cataract, ultrasound revealed a shallow anterior chamber and bilateral vitreous hemorrhage with retinal detachment. Case 3: In a 6-month-old girl with bilateral central corneal opacity, shallow anterior chamber, iridocorneal synechiae, and a cataract, ultrasound revealed a total retinal detachment in the right eye, and was uncertain in the left eye. Corneal transplantation was attempted in the left eye, but a retinal detachment was discovered peroperatively. There were associated central nervous system anomalies. CONCLUSIONS: Vitreoretinal dysplasia is a potentially evolving disease and can lead to anterior chamber thinning, corneal opacity, and secondary glaucoma. Anterior and posterior segment ultrasound is essential to fix the correct diagnosis and prognosis.

Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.

BACKGROUND: Stickler syndrome causes ocular abnormalities, including retinal detachment and vitreoretinal degeneration, and systemic anomalies such as arthritis and deafness. Although retinal detachment is characteristic of this syndrome, the pathogenesis is unknown. CASE REPORT: A 10-year-old boy reported decreased vision and presented 5 days after visual loss. RESULTS: Ophthalmoscopy showed a retinal detachment with a giant tear in the right eye, and a nonpigmented epithelial detachment with pars plicata breaks in the left eye. Bilateral findings included an empty vitreous and a vitreous membrane at the equator. The systemic abnormalities included short stature and joint hypermobility. The diagnosis was type 1 Stickler syndrome, and the eyes were treated surgically. Immunohistochemistry showed that the vitreous membrane resected intraoperatively was comprised primarily of Müller cells. Electron microscopy showed dense collagen fibers around the cells in the membrane that were identical to the vitreous collagen inserted into the basement membrane of the cells, which was similar to the ultrastructure of the vitreous base. CONCLUSION: Müller cells might be primary components of the vitreous membrane in type 1 Stickler syndrome. The vitreoretinal interface, which resembled the ectopic vitreous base, in the vitreous membrane may be related to the pathogenesis of the retinal detachment.

Persistent hyperplastic primary vitreous: congenital malformation of the eye.

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

Comparison of Manual Capsulorhexis and 25-Gauge Vitrectorhexis in Pediatric Cataract Surgery: A Pilot Study.

PURPOSE: To compare short-term visual outcomes (best corrected visual acuity [BCVA]), visual axis opacification, anterior (ACCC) and posterior (PCCC) continuous curvilinear capsulorhexis size, shape, and extension, and their decentration between manual capsulorhexis and 25-gauge vitrectorhexis in pediatric cataract surgery with intraocular lens (IOL) implantation. METHODS: Thirty eyes of children aged 3 to 8 years with developmental cataract were randomly selected for ACCC and PCCC by manual capsulorhexis forceps and 25-gauge vitrectomy cutter followed by IOL implantation and limited anterior vitrectomy. The size of the ACCC and PCCC was measured intraoperatively with calibrated capsulorhexis forceps. Patients were followed up for 3 months postoperatively and were evaluated for BCVA and visual axis opacification. Slit-lamp photographs of operated eyes were taken in retroillumination. The size in millimeters and decentration of the ACCC and PCCC from the center of the IOL were measured with the help of the Python imaging library. RESULTS: There was no statistically significant difference between BCVA (P > .05), visual axis opacification (P > .05), size of the ACCC (P > .05) and its decentration (P > .05), extension of the rhexis (P > .05), and size of the PCCC (P > .05) and its decentration (P > .05) between the two methods. CONCLUSIONS: In both groups, BCVA, visual axis opacification, and ACCC and PCCC size, shape, and decentration from the center of the IOL were comparable, making 25-gauge vitrectorhexis a good alternative to manual capsulorhexis. [J Pediatr Ophthalmol Strabismus. 2019;56(5):327-332.].

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.

Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous.

Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye characterized by the presence of a vascular membrane located behind the lens. We report, for the first time in the literature, the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to a diagnosis of bilateral PHPV, in a fetus at 23 weeks' gestation. Histological examination at postmortem confirmed the prenatal diagnosis of bilateral PHPV and cataract. A thorough ultrasound examination of the fetal eye in cases with cataract is recommended.

Pupillary block glaucoma in child with persistent hyperplastic primary vitreus--case report.

PURPOSE: The purpose of this paper is to present the case of a patient with PHPV, in whom the complication in a form of pupillary block glaucoma was observed as a result of idiopathic and complete lens dislocation into the anterior chamber. MATERIAL AND METHODS: Examination was performed on 3 months old boy with grey pupilla reflex, noted from the birth, in the right eye. Microphthalmia, subcapsular cataract and anterior-posterior form of PHPV was found in that eye. The patient was qualified to surgical treatment. Before the appointed time of operation the increased intraocular pressure and significant globe enlargement were noted. The reason of that was pupillary block caused by lens dislocation into the anterior chamber. One-step surgical procedure: trabeculectomy, lensectomy and cutting out the retrolenticular fibrous membrane, was performed in urgent course. RESULTS: Performed complicated and difficult surgical treatment resulted in normalizing IOP and created good conditions for vision rehabilitation for the child. Postoperatively the detachment of the choroid was noted as a transient complication. CONCLUSIONS: In this case luxated lens and pupillary block was caused by constriction of retrolenticular fibrous membrane. Early surgical intervention is necessary to prevent progressive pathologic changes in eyes with this developmental disorder and to obtain the best possible visual results.