Bilateral persistent fetal vasculature: A study of 11 cases

To identify the characteristics of peripheral retinal anomalies associated with persistent fetal vasculature (PFV) and evaluate the complications and outcomes. Retrospective, noncomparative case series of patients with PFV who underwent surgery. Type of PFV, presence of peripheral retinal anomalies, extent of the retrolental membrane, complications, and functional and anatomical results were evaluated. Twenty-nine eyes of 28 patients were enrolled in the study: 14 eyes (48.3%) with anterior PFV, 10 eyes (34.5%) with posterior PFV, and 5 eyes (17.2%) with combined PFV. The retina was found to elongate anteriorly as finger-like projections beyond the ora serrata, incorporating into retrolental fibrovascular tissue in 81.8% of the anterior PFV cases. Cases with more extensive retrolental tissue had a higher risk of retinal complications (p = 0.009) and anterior segment complications (p = 0.026) than those with localized disease. Leaving the peripheral part of the fibrovascular tissue in place led to complications by later contraction. A total of 35.7% of the anterior PFV cases had 20/200 or better vision at the final follow-up versus 6.7% of the cases with posterior involvement. Retinal attachment was achieved in 12 eyes (80%) with posterior involvement. Four eyes (13.7%) resulted in total retinal detachment at final follow-up. The high incidence of peripheral retinal anomalies that are found in anterior PFV patients and their relation to retinal complications warrant careful examination of the ora serrata-ciliary body area. Limbal approach may be preferred as a safer method in cases with an extensive fibrovascular membrane obscuring the view. Leaving the peripheral part of the fibrovascular tissue may result in severe postoperative complications, which should be avoided.

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert's syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a “molar tooth appearance” of the midbrain and an anomalous cerebellum suggestive of Joubert's syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert's syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.

Herpes simplex virus can cause serious ocular and systemic disease in the neonate. The mode of transmission to the neonate is usually from the maternal birth canal to the fetus intrapartum; but much more rarely, hematogenous transplacental infection can affect the developing fetus months prior to birth. Persistent fetal vasculature occurs when there is persistence of the fetal ocular vasculature, which normally regresses prior to birth. To our knowledge, we report the first case of serologically proven intrauterine herpes simplex virus infection associated with bilateral persistent fetal vasculature in a surviving term infant. Arch Ophthalmol. 2000;118:837-840

Background Persistent hyperplastic primary vitreous (PHPV) is a congenital eye disease of children, because its clinical manifestations are nonspecific, it is easy to be misdiagnosed as congenital cataract and the prognosis is poor.There has been more researches on PHPV clinical characteristics than its histopathological feature and immunochemistry. Objective This study was to investigate the clinical characteristics of PHPV and the pathological characteristics of retrolental membranes secondary to PHPV. Methods The clinical data of 6 PHPV eyes from 6 patients during May 2005 to December 2014 were retrospectively analyzed.All the PHPV eyes received a combinating procedure of cataract extraction and anterior vitrectomy.The retrolental membranes were collected during surgery for the histopathological examination by hematoxylin & eosin staining and periodic acid-Schiff (PAS) staining.Immunochemistry was used to detect the expression of Vimentin, smooth muscle actin (SMA), S-100, glial fibrillary acidic protein (GFAP), neuron specific enolase (NSE), epithelial membrane antigen (EMA), CD34 and proliferating cell nuclear antigen (PCNA) in the retrolental membranes. Results Monocular PHPV was found in 6 cases since born, with the main clinical manifestation of similar to congenital cataract.The ocular axial was shorter in 5 PHPV eyes than that of the contralateral eye by A-sonography, and 1 eye accompanied by eye nystagmus, strabismus and small cornea.The retrolental membranes were seen during the surgery in all cases, and the white band through the vitreous in 2 eyes.Pathological examination showed that the retrolental membrane was mainly composed of loose or myxoid connective tissue fibers, the capillaries and small veins.PAS positive tissue, residual transparent artery and differentiated adipocytes were exhibited in some specimens.Immunohistochemistry indicated that spindle-shape cells in the retrolental membranes presented the characteristics of mesenchymal cells, and some cells appeared the myofibroblast characteristics with the low proliferation activity.The development of the lens and the ciliary body was abnormal because of the stretching of retrolental membranes into the lens capsule in 1 PHPV eye.The follow-up was performed for 6-9 years in 4 eyes, with the best corrected visual acuity (BCVA) for 0.06, light perception, 0.05 and 0.07 respectively.The intraocular pressure was normal in all the eyes. Conclusions PHPV is usually misdiagnosed as congenital cataract and shows a poor postoperative BCVA.PHPV occurs mainly due to an incomplete regression of the embryonic vitreous and hyaloid vasculature and eventual abnormality of lens. Key words: Child; Eye abnormalities/etiology; Eye diseases/congenital; Hyperplasia; Vitreous body/abnormalities; Retrolental membranes; Persistent hyperplasic primary vitreous/pathology

Persistent Fetal Vasculature (PFV), also known as Persistent hyperplastic primary vitreous (PHPV), is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It can occur in isolation, in association with other ocular disorders and rarely as a part of systemic disorder. Most cases of PFV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. PFV is divided into anterior and posterior types. Characteristic features include microphthalmic eye, white vascularized retrolental tissue with or without a persistent hyaloid artery, centrally dragged ciliary processes, an anteriorly shifted and (or) swollen lens, and varying degrees of lenticular opacification. Radiological investigations (ultrasound, computerised tomography, magnetic resonance imaging) aid in the diagnosis and differentiation from other causes of leucocoria. Although visual potential is limited in PFV, with modern vitreoretinal techniques, aphakic rehabilitation, and aggressive amblyopic therapy, useful vision can be obtained in selected patients. This article presents a current review of PFV, including the pathogenesis, genetics, clinical features, differential diagnosis, and management.

Background: Moyamoya (MM) is a rare progressive arteriopathy characterized by progressive stenosis and occlusion of the internal carotid arteries (ICA) and ultimately the arteries of the circle of Willis. It is called moyamoya disease (MMD) when idiopathic and involving bilateral ICA, and moyamoya syndrome (MMS) when associated with well-recognized risk factors, or when idiopathic but unilateral. Given the paucity of literature on MMS, we analyzed the clinical and radiological characteristics of MM patients presenting to our institute. Methods: We retrospectively identified patients admitted with acute neurological deficits and had ‘moyamoya-like’ physiology from our stroke registry (07/04 to 03/11). We collected demographics, clinical and laboratory data, and prior and subsequent hospital admissions. Two clinically blinded neuroradiologists collected radiological data including vessels involved, type of collateralization, and disease stage and progression. Patients were categorized into MMD or MMS based on risk factors and the side of disease. Results: We identified 36 MM patients (mean age 41.3 years), 13 (36.1%) with MMD and 23 (63.9%) with MMS. Both groups had female preponderance and multiracial involvement; hemiparesis was the leading clinical sign, and most patients had low HDL levels (83%). In MMS group, 4 (17.4%) patients had idiopathic unilateral disease, 4 (17.4%) had atherosclerotic disease, 3 (13%) each had vasculitis and intracranial dissection, 2 (8.7%) each had sickle cell disease and APLA syndrome, and 1 (4.3%) each had Down’s syndrome, Lupus, thyrotoxicosis, hypercoagulable disorder and chronic cocaine use. The MMS patients tended to be older, and higher proportion had ischemic stroke (87%) and neurological worsening after acute event (35%). On the other hand, higher proportion of MMD patients had hemorrhagic stroke (38.5%), multiple (>5) hospital admissions (23%) and EEG abnormality (80%) and were discharged home (62%). In MMS group, 2 (8.7%) patients underwent hemicraniectomy. In MMD group, 12.5% had disease progression radiographically. The clinical and radiological characteristics of these patients are summarized in tables 1 and 2 respectively. Conclusion: We present the single-center experience of clinical and neuroradiological characteristics of patients with MMS.

In Reply. —We agree with Dr Raizman's comment that microphthalmos is a common finding in children with a deletion of the long arm of chromosome 13, but we believe that a distinction should be made between microphthalmos and microphthalmos with cyst. Although bilateral microphthalmos with cyst is usually associated with other systemic anomalies, to our knowledge it has never been described with the 13q syndrome. Dr Raizman's statement that embryonic ocular defects such as microphthalmos are a hallmark of the 13q and ring 13 syndromes is misleading. According to current usage, the term hallmark means a distinguishing feature. Microphthalmos, however, is a manifestion of a variety of unrelated disorders. It may be found in association with congenital infections and in several chromosomal abnormalities besides 13q, as well as being a feature of other ocular anomalies such as persistent hyperplastic primary vitreous. There have been more than 25 different systemic abnormalities

Metastases of thyroid carcinomas to the choroid and/or orbit are infrequent. PubMed was searched for English-language articles and case reports published from 1977 to 2012. In our survey, we looked for reports of orbital and/or ocular metastases from the thyroid and found 31 reported cases from 1979 to 2012. At the time of onset of ocular symptoms, the vast majority of patients had a long history of thyroid malignancy and evidence of widely disseminated metastatic disease. The age of the reported patients ranged from 29 to 83 years. Among the 22 reported cases of thyroid carcinomas with metastases to the choroid from 1979 to 2012, the most common primary tumor was papillary thyroid carcinoma (PTC); this occurred in seven patients. This was followed by medullary thyroid carcinoma in six cases and follicular thyroid carcinoma (FTC) in five cases. Orbital metastases were reported in nine patients with thyroid carcinomas (PTC=4, FTC=3, Hürthle cell=1, not specified=1). Patients with choroidal metastases presented with decreased or blurred vision, eye pain, and flashes in 81%, 5%, and 5% of cases, respectively. The diagnosis of a choroidal tumor was usually based on noninvasive diagnostic techniques such as ultrasonography, transillumination, computer tomography (CT), and/or magnetic resonance imaging (MRI) scanning. ¹³¹I scanning revealed uptake in the orbit in 26% of cases with choroidal and/or orbital PTC or FTC. For a metastasis that causes a definitive loss of vision and/or persistent pain, the treatment of choice was enucleation. The other treatment options were brachyradiotherapy using ¹²⁵I episcleral radioactive plaque insertion, external beam radiation, ¹³¹I therapy, chemotherapy, and/or targeted therapy with small molecules. The orbit and globe are not common sites for metastatic thyroid carcinomas. Diagnosis of a choroidal tumor is usually based on clinical judgment and results of noninvasive diagnostic techniques such as ultrasonography, transillumination, CT, and/or MRI scanning. Fundoscopic examination and ocular ultrasonography by an ophthalmologist are recommended for identification and monitoring of choroidal metastatic deposits.

ObjectivesIgG4-related disease (IgG4-RD) is a chronic inflammatory disorder with prominent fibrosis. This retrospective analysis was undertaken to study the clinical, laboratory, and radiological characteristics of patients with extra-pancreatic IgG4-RD and their response to treatment at a tertiary care centre located in northern India.Material and methodsPatient data from our centre between January 2017 and January 2021 were reviewed. Probable/definite IgG4-RD cases were included in the analysis.ResultsA total of 14 cases were identified with a median age of 39 years (range 19–56 years). There were 10 males and 4 females. All patients presented with slowly progressive soft tissue swellings with pain/discomfort related to local mass effect. The median delay in diagnosis was 9.5 months (range 2–72 months). Cross-sectional imaging showed soft tissue masses in all cases. All contrast-enhanced studies (n = 7) showed enhancement on computed tomography and magnetic resonance imaging scan. F-18 fluorodeoxyglucose-avidity was observed in 8 of 9 (88.9%) cases. Biopsies performed in 12 of these were classified as definite in 8 and possible IgG4-RD in 4 cases. Patients were treated with a median dose of 1 mg/kg/day (range 0.5–1 mg/kg/day) prednisolone. Steroids were successfully tapered in all 12 cases with 41.6% (5 of 12) being off corticosteroids at a median follow-up of 10 months (range 0–18 months). Two patients were lost to follow-up.ConclusionsIgG4-related disease is a chronic illness with a wide spectrum of manifestations, in which the diagnosis is often delayed, but it shows an excellent response to treatment. Efforts must be made to increase awareness among physicians about this disease to institute appropriate treatment as early as possible.

Effect of intraocular pressure control on central corneal thickness, horizontal corneal diameter, and axial length in primary congenital glaucoma

PurposeBilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation.MethodsRetrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects.ResultsTwenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families.ConclusionsCombined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.

Changes in the Contralateral Eye in Uncomplicated Persistent Hyperplastic Primary Vitreous in Adults

OBJECTIVE Early rehabilitation is effective in an array of acute neurological disorders but it is not established as part of treatment guidelines after aneurysmal subarachnoid hemorrhage (aSAH). This may in part be due to the fear of aggravating the development of cerebral vasospasm, which is the most feared complication of aSAH. The aim of this study was to evaluate the effect of early rehabilitation and mobilization on complications during the acute phase and within 90 days after aSAH. METHODS This was a prospective, interventional study that included patients with aSAH at the neuro-intermediate ward after aneurysm repair. The control group received standard treatment, whereas the early rehab group underwent early rehabilitation and mobilization in addition to standard treatment. Clinical and radiological characteristics of patients with aSAH, progression in mobilization, and treatment variables were registered. The frequency and severity of cerebral vasospasm, cerebral infarction acquired in conjunction with the aSAH, and acute and chronic hydrocephalus, as well as pulmonary and thromboembolic complications, were compared between the 2 groups. RESULTS Clinical and radiological characteristics of patients with aSAH were similar between the groups. The early rehab group was mobilized beginning on the first day after aneurysm repair. The significantly quicker and higher degree of mobilization in the early rehab group did not increase complications. Clinical cerebral vasospasm was not as frequent in the early rehab group and it also tended to be less severe. Each step of mobilization achieved during the first 4 days after aneurysm repair reduced the risk of severe vasospasm by 30%. Acute and chronic hydrocephalus were similar in both groups, but there was a tendency toward earlier shunt implantation among patients in the control group. Pulmonary infections, thromboembolic events, and death before discharge or within 90 days after the ictus were similar between the 2 groups. CONCLUSIONS Early rehabilitation of patients after aSAH is safe and feasible. The earlier and higher degree of mobilization does not increase neurosurgical complications. Rather, the frequency and severity of cerebral vasospasm following aSAH are alleviated and are not aggravated by early rehabilitation. Clinical trial registration no.: NCT01656317 ( www.clinicaltrials.gov ).

The purpose of this study was to examine the relationship between extraprostatic seed placement and seed loss in a cohort of patients who had underwent both computed tomographic (CT) and magnetic resonance (MR) scans at day 0 and day 30 following brachytherapy. Twenty-two patients with 1997 AJC clinical stage T1-T2 prostatic carcinoma were implanted with nonstranded I 125. Patients were selected solely by having a prostate volume between 15 and 60 cc and a willingness to return for 30-day follow-up CT and MR scans. The total number of I-125 sources implanted on day 0 ranged from 50 to 104 (median: 70). Preplan treatment planning methods have been previously described in detail: a modified peripheral loading pattern and treatment margins of 5-10 mm were used. Noncontrast postimplantation CT and MR scans were obtained 1-4 hours after implantation on day 0. The total seed count on days 0 and 30 was verified by plain radiograph. Pelvic MR (T1) images were registered with the CT images in the Varian planning system, using bony landmarks. The number of extracapsular seeds in each quadrant of the circumference was then totaled for each patient. A second set of plain radiographs (for seed counting), as well as CT and MR scans, were obtained 30 days after implantation (day 30) and were similarly analyzed. The number of extraprostatic seeds at day 0 ranged from 13 to 35, making up 17%-48% (median: 34%) of the total number implanted. Of the 22 patients, 10 lost one or more seeds between the implantation day and the 1-month follow-up. The mean number of seeds lost was 1.1 (+/- 1.7). There was no apparent relationship between the percent of extraprostatic seeds and the number of seeds lost. There was no apparent relationship between seed loss and number of seeds less than 3 mm or greater than 3 mm from the prostatic capsule. We have shown here that with CT and MR seed localization, extraprostatic seed placement does not appear to substantially increase the likelihood of seed loss after the procedure.

Purpose: To assess the effectiveness of goniotomy in children suffering from primary congenital glaucoma. Material and Methods: 22 patients were selected from pediatric outdoor of LRBT Free Eye and Cancer Hospital, Lahore. 37 eyes of those 22 patients underwent goniotomy. Regular follow-up visits were planned after their surgery on which their intraocular pressure (IOP), cup/disc ratio (CD Ratio) and horizontal corneal diameters were recorded. Final post-operative IOP, CD Ratio and corneal diameters were recorded on the 180th post-operative day. Results: 37 eyes of 22 patients were operated. Their demography showed that 14 patients (64%) were male and 8 patients (36%) were female. Mean age of the patients was 9.54 months, ranging from 2 – 36 months. On 180th postoperative day, it was seen that IOP decreased in 92% cases, CD ratio reversal occurred in 67.6% eyes and horizontal corneal diameters remained stable in 75.7% eyes. Conclusion: Goniotomy is an effective procedure to treat children having primary congenital glaucoma.