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Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females with early embryonic lethality in males. We present a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 2-year-old girl.
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Axenfeld-Rieger syndrome is inherited in an autosomal dominant pattern and is characterized by anomalies of the anterior segment of the eye and systemic signs including craniofacial dysmorphic features and cardiac defects. The disorder is genetically heterogeneous and one causative gene, FOXC1, is located on chromosome 6p25. Persistent hyperplastic primary vitreous (PHPV) is a congenital ocular disorder in which there is a failure of the normal regression of the primary vitreous and a proliferation of fibrous tissue from the remnants of the primary vitreous. Deletions of chromosome 6p25 have been reported in a small number of patients with Axenfeld-Rieger syndrome; however, no case of chromosome 6p25 deletion has been reported with PHPV. We report a newborn girl who had both Axenfeld-Rieger syndrome and the combined type of PHPV, in whom the G-banding and spectral karyotyping revealed a 6p monosomy of terminal deletion with a breakpoint at chromosome 6p25.1. The karyotype was 46,XX,del(6)(p25.1). We conclude that PHPV in the context of Axenfeld-Rieger syndrome can be caused by 6p25 terminal deletion.
We have recently treated an 8-year-old boy who had leukocoria, microcornea, cataract, and falciform retinal fold in the right eye and multiple grouped patches of pigmentation in the left retina. These were diagnosed as persistent hyperplastic primary vitreous in the right eye and congenital grouped pigmentation of the retina in the left. This patient had a different rare congenital anomaly in each eye.
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We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.
A 1.5-year-old girl presented with a peripheral iris mass. When the girl was 3 years old, the lesion was excised after it had manifested significant growth. A stalk of fibrovascular tissue was noted to extend from the lesion to the optic disc. Histopathologically, the tumor was a well-circumscribed, pigmented ciliary body adenoma. Electron microscopy revealed characteristic neuroepithelial melanosomes, distinct from those of choroidal melanocytes, and occasional annulate lamellae. A fibrovascular membrane extended over the tumor surface and was adherent to lens capsule. The association of this adenoma with a persistent stalk of primary vitreous indicates a congenital origin of this tumor. Both adenoma and adenocarcinoma of the pigmented and nonpigmented ciliary epithelium tend to be disorders of adults. The authors report the youngest presentation of a pigment epithelium adenoma, the only well-documented case associated with persistent hyperplastic primary vitreous, and the only documentation of annulate lamellae in a ciliary body tumor.
In order to investigate whether the p53 gene product plays a role in normal eye development, age matched p53-deficient mice and wild-type controls were sacrificed from day 2 to day 21 after birth. Eyes were paraffin-embedded and sectioned. Serial sections were taken at the level of the tunica vasculosa lentis and the hyaloid artery. The terminal dUTP nick-end labelling technique (TUNEL) was used to detect the number of cells displaying DNA fragmentation within these structures. Eyes were also prepared for scanning electron microscopy and resin embedded for semi-thin sections. Adult wild-type mice and p53-deficient mice were examined ophthalmoscopically in vivo. Ophthalmoscopical examination of mice completely deficient in p53 revealed them to be normal except for the persistence of the hyaloid vasculature, a structure that normally regresses during eye development. In adult animals there was also a high frequency of cataracts. Using morphological assessment and TUNEL we could show that in normal mice, regression of the primary vitreous, which includes the hyaloid artery, the vasa hyaloidea propria as well as the tunica vasculosa lentis, occurs via apoptotic cell death within 5 - 6 weeks after birth. The number of TUNEL-positive cells within these structures was significantly reduced in the p53-deficient mice in which parts of the hyaloid vasculature persisted and developed into a fibro-vascular retrolental plaque analogous to persistent hyperplastic primary vitreous (PHPV) described in humans. As in humans, PHPV in mice resulted in the development of cataracts. We have identified a role for p53-dependent apoptosis in the regression of the hyaloid vasculature and tunica vasculosa lentis. Our results provide further evidence for the importance of p53 in normal development and provide the first detailed evidence of its role in postnatal development in remodelling the developing eye.
PURPOSE: Pseudorabies virus (PRV), a representative member of the alpha-herpesvirus family, causes nervous symptoms and ocular lesions, such as keratoconjunctivitis and retinal degeneration in piglets. The immediate-early protein IE180 of the PRV is known to be essential, not only in viral gene expression, but also in the cellular gene expression in host cells. The purpose of this study was to examine the effect of IE180 on the development of the mouse eye, by using transgenic technology. METHODS: Transgenic mice expressing IE180 were generated and their eyes analyzed by histology, immunocytochemistry, and the bromodeoxyuridine cell proliferation assay. RESULTS: A fibrovascular retrolental tissue analogous to persistent hyperplastic primary vitreous (PHPV) in humans was observed in a transgenic mouse line expressing IE180. The gross anatomy of the eye showed white pupils. Analysis of hematoxylin and eosin-stained sections revealed that the retrolental tissue adhered to the neuroretina, the inner nuclear and ganglion cell layers were disorganized, and rosettelike arrangements of dysplastic photoreceptor cells were present. Bromodeoxyuridine-positive cells were detected in the retrolental tissues of postnatal day (P)1, P7, and P14 mice. The retrolental mass in the P7 transgenic mouse was composed of melanocytes and endothelial cells, which were detected by a cocktail of antibodies against endoglin, CD31, and VEGF receptor-2. CONCLUSIONS: The observation that the eye disease in transgenic mice is similar to that in PHPV in humans raises the possibility that expression of the immediate-early gene of alpha-herpesviruses may contribute to PHPV.
AIM OF THE STUDY: To assess the diagnostic viability of ultrasound and color Doppler ultrasound in a particular segment of paediatric ophthalmology-persistent primary hyperplastic vitreous, in the presence of leucocoria, retrospectively evaluated in patients observed over the last two years. MATERIAL AND METHODS: We re-evaluated four patients (two new-born, one unweaned and one nine-years-old) who at ophthalmoscopic examination were suspected having persistent primitive hyperplastic vitreous. The follow-up included an ultrasound examination, basic color-Doppler ultrasound and re-evaluation during sedation both using an operative microscope and ultrasound. The examinations were performed with linear 7.5 Mhz probes and a Doppler frequency of 3.7 Mhz, while the sedation examination was performed with an anular 13 Mhz probe. The scans were sagittal and axial to correctly localize the lesion with respect to the lens, to ciliary bodies and to the optic nerve head. RESULTS: In the first patient ultrasound revealed a hyperechogenic inhomogeneous structure bilaterally in the vitreous structure; this extended from the posterior wall of the lens to the optic nerve head and retina, and was found to be highly vascolarized at the subsequent color-Doppler ultrasound. In the second patient there was an echogenic band extending from the posterior wall of the lens to the optic nerve head and to the retina, as the fourth patient showed a series of echogenic bands extending from the temporal ciliar of bodies to the temporal retina; in both cases no significant vascolarization was found by color Doppler ultrasound. In the third patient ultrasound showed a lesion involving nearly all of the vitreous body, with inhomogeneous structure with small calcifications and intense vascolarization. DISCUSSION AND CONCLUSIONS: Ultrasound supplies essential information for the diagnosis of persistent hyperplastic primary vitreous as it determines the presence of the lesion, its extension and retinal and optic nerve head involvement. As confirmed by operative microscopy the first patient had bilateral lesions involving the optic nerve head, as well as the retina, the latter which appeared raised. The second and fourth patients had typically posterior lesions; the lesion of the third patient was difficult to interpret even by operative microscopy. To conclude,Ultrasound proved to have an optimal sensitivity and specificity for precisely locating the site and extension of the lesion. By contrast, the difficulties and need for sedation with color Doppler ultrasound unlikely to be useful with paediatric patients.
A case of morning glory syndrome with striking persistence of primary vitreous is presented. The hypothesis that the syndrome is an expression of abnormal closure of the embryonic fissure is substantiated by the coexistence of lens colobomas. Furthermore, the marked primary vitreous hyperplasia shows the way in which persistence of primary vitreous influences the clinical expression with respect to optic pit and colobomas of the optic nerve.
In a 27-year-old patient a microphthalmic eye with congenital cataract was enucleated because of persistent recurrent iridocyclitis with a secondary glaucoma. Histopathological examination has shown a lens shrunken up to the capsule and a retrolental typical fatty tissue (pseudophakia lipomatosa). Secondary angle closure glaucoma and chronic uveitis seem to be due to an untreated hypermature cataract. These findings and the clinical course are suggesting that the opaque lens and the persistent hyperplastic vitreous body should have been operated in order to avoid complications.
We report on a patient with oculo-dento-osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first-cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.
The clinical features and fluorescein angiographic findings of an 18-year-old man with PHPV are reported. The case is unusual in that the eye survived into adulthood. The lens resorbed spontaneously, thereby permitting study of the retrolental mass by fluorescein angiography. Fluorescein leakage from the persistent vessels was very slow but present, thus indicating a probable disruption of the endothelial tight junctions of the tunica vasculosa lentis.
BACKGROUND: Favorable results in the management of PHPV, made possible by improved surgical techniques, are described in the literature. However, the functional results are in general in the low-vision sector (rarely better than 0.025-0.1 maximum). PURPOSE: To introduce long-term acuity results and estimate the relative amblyopia in early operated PHPV. MATERIAL AND METHODS: Six patients suffering from PHPV of varying degrees (posterior polar cataract, posterior lenticonus, traction and malformation of the optic nerve head and macula region, persistent vitreous vessels) underwent pleoptic treatment after surgery (lentectomy in all, additional stalk-cutting in three cases) at the age of 3 to 7 months. The patients were followed up to age 7 to 12 years. Visual acuity was assessed by Landolt ring single and closely interspaced linear optotypes (C-Test developed by Haase/Hohmann). RESULTS: Compliance with the amblyopia treatment was good in five patients. Visual acuity (VA) improvement in the affected eye could be seen up to early school age (6-8 years). Final VA outcome was 0.1 (minimum) to 0.7 (maximum) with single optotypes. VA for crowded optotypes was maximum 1 octave below single optotype VA. The visual development of the phakic eye was not delayed, i.e. not disturbed by long-term patching. DISCUSSION: Compliance with amblyopia treatment and long-term visual acuity in the cases presented here are even more favorable than described in the literature. As the amount of crowding is small, we conclude that there is little relative (additional) amblyopia and that the functional outcome is limited only by the degree of ocular malformation. Surgical treatment in comparable cases is encouraged.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.