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Congenital neuroblastoma in a patient with partial trisomy of 2p.

We report the fourth example of a patient with germline partial trisomy of 2p21-pter and congenital neuroblastoma. The male infant had a dysmorphic facial expression and presented with congenital heart disease, supernumerary nipples, hypospadias, shawl scrotum, hemilateral persistent hyperplastic primary vitreous, and neuroblastoma. His germline karyotype of 46,XY,der(8)t(2;8)(p21;p23.2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24.3 is tripicated in germline cells. A cytogenetic study of the biopsied tumor cells did not show MYCN amplification, but the DNA index was 2.4 and histologic fluorescent in situ hybridization analysis indicated somatic mutation with near-pentaploidy of the tumor cells. This could be an alternative mechanism of MYCN activation in the process of the tumorigenesis of neuroblastoma.

Abnormalities, Multiple↗

Grading infantile cataracts.

PURPOSE: To introduce and describe two methods of grading the severity of infantile cataracts, and thereby propose a useful clinical guide for early surgical intervention. METHODS: Thirty-three subjects, aged 1 week to 8 years, participated in the study. Twenty-two were evaluated soon after birth (1 week), and 11 in childhood (3-8 years). All had isolated infantile cataracts, of which 16 were bilateral and 17 unilateral. Nine cataract types were examined; nuclear (n = 9), lamellar (n = 9), posterior lenticonus (n = 4), persistent hyperplastic primary vitreous (n = 4), posterior polar (n = 3) and single cases of total, cortical, sutural and anterior polar. Grading the infantile cataracts was performed subjectively based on the cataract morphology, density and position using an 11-point (0-10) ordinal scale. Objective measures of the cataracts were performed by scanning and then digitising photo-slit lamp images to provide cataract intensity profiles. Subjects without cataracts acted as controls. RESULTS: Subjective gradings of 0 and 10 were assigned to the clear, cataract-free lens and the total cataract, respectively. Fixed grades of 1 (anterior polar, sutural) and 6 (posterior polar) were assigned to the three remaining cataracts with static morphologies. The five cataracts which were all progressive were given grading ranges, reflecting the initial and likely final morphological states. Objective measures were found to be valuable in indicating the exact position and relative density of the cataract, as well as accurately defining boundaries. CONCLUSIONS: The magnitude and severity of infantile cataracts can be usefully characterised by an 11-point ordinal subjective grading scale. Although subjective grading alone is satisfactory, it can be greatly assisted by objective measures, particularly in the documentation of cataract progression. Cataracts assigned grades 1-4 were considered minor obstructions to vision and therefore not candidates for early surgery. Cataracts graded 5 and above were considered major visual defects, and ideally should be removed early in life.

Cataract↗

Development of visual acuity in infants with congenital cataracts.

The visual acuity of 4 infants with congenital cataracts was measured serially during the first year of life by a preferential looking technique. Two infants with bilateral cataracts and no measurable acuity before surgery showed rapid development of acuity to normal levels for age after surgery and optical correction. In an infant with a unilateral cataract and an infant with a cataract and persistent hyperplastic primary vitreous marked differences in monocular acuities were found after surgery. Acuities became equal in the latter case after occlusion of the normal eye, while the other infant recovered acuity with 'bi-ocular' viewing. These acuity measurements demonstrate the sensitivity of the human visual system to binocular and monouclar visual form deprivation in the first year of life.

Cataract↗

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling.

The heritable falciform folds and congenital retinal non-attachment reported in the literature are here divided into monosymptomatic and complex types. Of the former, autosomal dominant and recessive disorders are known. The complex types comprise several syndromes, both autosomal recessive and X-linked. Retinal dysplasia is sometimes seen in histological sections from these affections, but it is an unspecific histological reaction, and not a disease sui generis. Attention is drawn to the syndrome with microcephaly, microphthalmia and falciform detachment which, though previously described, has not so far been delineated. It is hypothesized that hydrocephaly and congenital retinal non-attachment with or without microphthalmia and persistent hyperplastic primary vitreous constitute yet another 'new' syndrome, mainly seen in females.

Female↗

Ocular abnormalities in mice lacking the Ski proto-oncogene.

PURPOSE: Persistent hyperplastic primary vitreous (PHPV) is a developmental ocular malformation often associated with additional ocular abnormalities. This study involved a novel mouse model of PHPV, generated by a null mutation of the Ski proto-oncogene, that displays other anterior segment and retinal malformations often found in human cases of PHPV. METHODS: Morphologic and histologic analyses of Ski-/- mice were used to document ocular abnormalities in comparison to those of normal littermates. Immunohistochemical studies were used to examine the expression of relevant markers of ocular and vascular development including Pax6, beta-III tubulin, and Flk1. RESULTS: PHPV and microphthalmia were found in 100% of Ski-/- fetuses. Other abnormalities included anterior segment and lens dysgenesis, retinal folds, chorioretinal coloboma, and Peters anomaly. The severity was variable, even in a highly homogeneous genetic background. PHPV was characterized by the presence of retrolental fibrous and vascular tissue that did not express the neuronal marker beta-III tubulin, but was positive for Flk1 expression and contained no obviously pigmented cells. CONCLUSIONS: The results show that normal ocular development requires the function of the Ski proto-oncogene, and mice lacking Ski have many features associated with PHPV, and some similarities with Peters anomaly in humans. Defects in Ski-/- mice closely resemble those described in animals lacking several of the retinoic acid receptor genes, or in animals exposed to excess retinoic acid during gestation. Ski has been shown to repress transcription induced by retinoic acid signaling, and may thus affect ocular development by regulating RA signaling.

Abnormalities, Multiple↗

Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells.

BACKGROUND: Development of the eye depends partly on the periocular mesenchyme derived from the neural crest (NC), but the fate of NC cells in mammalian eye development and the signals coordinating the formation of ocular structures are poorly understood. RESULTS: Here we reveal distinct NC contributions to both anterior and posterior mesenchymal eye structures and show that TGFbeta signaling in these cells is crucial for normal eye development. In the anterior eye, TGFbeta2 released from the lens is required for the expression of transcription factors Pitx2 and Foxc1 in the NC-derived cornea and in the chamber-angle structures of the eye that control intraocular pressure. TGFbeta enhances Foxc1 and induces Pitx2 expression in cell cultures. As in patients carrying mutations in PITX2 and FOXC1, TGFbeta signal inactivation in NC cells leads to ocular defects characteristic of the human disorder Axenfeld-Rieger's anomaly. In the posterior eye, NC cell-specific inactivation of TGFbeta signaling results in a condition reminiscent of the human disorder persistent hyperplastic primary vitreous. As a secondary effect, retinal patterning is also disturbed in mutant mice. CONCLUSION: In the developing eye the lens acts as a TGFbeta signaling center that controls the development of eye structures derived from the NC. Defective TGFbeta signal transduction interferes with NC-cell differentiation and survival anterior to the lens and with normal tissue morphogenesis and patterning posterior to the lens. The similarity to developmental eye disorders in humans suggests that defective TGFbeta signal modulation in ocular NC derivatives contributes to the pathophysiology of these diseases.

Animals↗

Spontaneous ophthalmic lesions in young Sprague-Dawley rats.

Eight hundred eight Sprague-Dawley rats were examined for ophthalmic abnormalities during a pretest period in various preclinical safety assessment studies. Persistent pupillary membrane, corneal crystal, healed minor trauma, synechia, coloboma of the iris, lens luxation, cataract, persistent hyperplastic primary vitreous, vitreous hemorrhage, coloboma of the optic disc or choroid, remnant of hyaloid arterial system, retinal hemorrhage, retinal detachment, retinal folding and choroidal defect were observed. The incidences of corneal crystal, synechia, and nuclear cataract in this survey were higher than those reported previously. On the other hand, retinal folding in this survey was less common than that reported previously. These results suggest that background data of eye problems in albino rats should be accumulated in each own laboratory colony. In addition, since spontaneous eye problems are common in young albino rats, elimination of rats with ophthalmic abnormalities from study groups by an ophthalmic examination during a pretest period would facilitate to evaluate toxicity potential of test compounds in safety assessment studies.

Animals↗

Five cases of microphthalmia with other ocular malformations.

We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.

Abnormalities, Multiple↗

Sclerosing endophthalmitis in children: computed tomography with histopathologic correlation.

Three children with histopathologically diagnosed sclerosing endophthalmitis presumably secondary to Toxocara canis were studied by orbital computed tomography. The diffuse increased intraocular density present in the CT scans was indistinguishable from that observed in Coats's disease and non-calcifying retinoblastoma. Although retinoblastoma constitutes the major life-threatening cause of leukocoria in children, a number of other simulating conditions (pseudoglioma) can cause diagnostic confusion. In some cases of leukocoria it is exceedingly difficult to exclude the possibility of retinoblastoma without having to resort to enucleation. The availability of new non-invasive tests may make the distinction between retinoblastoma and pseudogliomas more easily attainable. Computed tomography (CT) has been shown to be of particular value in this regard by demonstrating intraocular calcification within retinoblastoma and rarely in lesions that stimulate it. CT may also be used to more appropriately plan therapy for children with retinoblastoma by assessing the status of the optic nerve and orbit. The exact role of CT in the evaluation of children with leukocoria, however, has not been completely established, since the computed tomographic features of several lesions that simulate retinoblastoma have not been described. The three most common causes of pseudoglioma are persistent hyperplastic primary vitreous, Coats's disease and sclerosing endophthalmitis. The latter entity when associated with a characteristic granulomatous inflammation is considered to represent the sequela of Toxocara canis infection of the eye. This report describes the computed tomographic findings in three cases of histologically diagnosed sclerosing endophthalmitis, presumably due to Toxocara canis.

Child↗

Computed tomography with histopathologic correlation in children with leukokoria.

Computed tomography (CT) constitutes a major advance in noninvasive diagnostic investigation of children with leukokoria , especially where media opacities preclude adequate visualization of the posterior segment, and, performed in conjunction with other studies such as diagnostic ultrasonography, has significantly improved diagnostic accuracy. Although retinoblastoma, the commonest life-threatening cause of leukokoria , usually presents with characteristic CT findings of intraocular calcification, during extraocular extension, the orbital portions of the tumor are non-calcific and contrast dramatically with the intraocular portion. Currently CT is also the best available technique for diagnosis of trilateral retinoblastoma. Computed tomographic features of several types of pseudogliomas (a collective term for lesions commonly mistaken for retinoblastomas) are also discussed with histopathologic correlation. In persistent hyperplastic primary vitreous, a conical density in CT corresponded to detached and dysplastic retina. A high density layered opacity corresponded to subretinal blood. In Coats' disease and sclerosing endophthalmitis homogenous intraocular CT density corresponds to vitreous and subretinal exudates radiologically indistinguishable from non-calcific retinoblastoma. Long-standing retinal detachments in children occasionally presenting with leukokoria showed subtle homogenous intraocular densities on CT.

Child, Preschool↗

Results of early treatment of unilateral congenital cataracts.

Twelve infants with unilateral congenital cataracts treated at Boston Children's Hospital between 1978 and 1986 have now reached the age of 3.5 years or older. All infants had cataract extractions, aphakic contact lens fitting, and occlusion of the unaffected eye by 6 months of age. Patients with posterior lenticonus or persistent hyperplastic primary vitreous were excluded from this review. Early improvement of visual acuity in the aphakic eye was monitored by preferential looking tests, and occlusion of the sound eye was adjusted accordingly. E card visual acuities are now available on all 12 children. Five patients have 20/70 or better visual acuity, three patients have between 20/100 and 20/400 vision, and four patients have less than 20/400 in the aphakic eye. Two patients whose cataract surgery was done after 4 months of age had the poorest visual results. Difficulty maintaining occlusion therapy and interruptions of contact lens wear limited the development of better vision in some patients. The visual results to date in these 12 patients suggest that early aggressive treatment of unilateral congenital cataracts is worthy of consideration in most instances.

Cataract↗

Lesions simulating retinoblastoma.

Of 500 consecutive patients referred to the Ocular Oncology Service at Wills Eye Hospital with the diagnosis of possible retinoblastoma, 288 (58%) were found on clinical evaluation to have retinoblastoma and 212 (42%) had lesions that simulated retinoblastoma. A total of 23 different conditions accounted for the 212 pseudoretinoblastomas. Three most common pseudoretinoblastomas were: persistent hyperplastic primary vitreous (28%), Coats' disease (16%), and presumed ocular toxocariasis (16%). Congenital cataract and retinopathy of prematurity accounted for a much lower percent of pseudoretinoblastomas in this series as compared to a previously reported series. The pertinent clinical features that serve to differentiate these simulating lesions from retinoblastoma are reviewed.

Diagnosis, Differential↗

Peters' anomaly: a clinicopathologic study.

Two infants were born with bilateral Peters' anomaly. The first baby was a girl, born prematurely at 35 weeks of gestation and who died 8 days later. The second infant was a boy, born at 38 weeks of gestation, who had severe conotruncal abnormality of the heart. Both babies had distinctive facial dysmorphism and severe central nervous system abnormalities including partial or complete absence of the corpus callosum and cerebral calcifications. Biochemical and genetic investigations showed no abnormalities in either child and there was no family history of genetic disorders. Neither case showed evidence of an intrauterine infection. Postmortem ocular findings in the first infant included bilateral herniation of the ruptured cataractous lens into the posterior corneal defect, iridocorneal adhesions, persistent hyperplastic primary vitreous, and total retinal detachment. The left eye of the second infant was eviscerated at 11 months of age because of recurrent, spontaneous perforation. Pathologic ocular findings included large fragments of lens material adherent to the posterior corneal stroma through a large central defect in Descemet's membrane and endothelium, fibrovascular proliferation of the adjacent corneal stroma, and iridocorneal adhesions.

Cornea↗

Reappraisal of occlusion therapy for severe structural abnormalities of the optic disc and macula.

The visual function of some children with structural defects of the macula or optic nerve has previously been shown to improve with occlusion therapy. The charts of five children, ages 4 to 8 years, who had various types of severe structural abnormalities were reviewed. Two patients had optic nerve hypoplasia; there was one case each of foveal hypoplasia, posterior persistent hyperplastic primary vitreous, and retinopathy of prematurity. All the patients had undergone extensive amblyopia therapy prior to referral. In three children, occlusion therapy had been initiated and continued intensively for several months or longer without recognizing the presence of a severe, underlying structural abnormality. In none of the five children was there any clear-cut evidence of visual improvement. In some cases, the long period of enforced iatrogenic vision impairment resulted in significant psychosocial harm and developmental delay. In all five cases, it was structural changes rather than amblyopia that ultimately accounted for visual loss. The authors stress the importance of a meticulous fundus examination directed at finding organic defects prior to patching. Close, periodic monitoring of visual function should then follow. To spare the child unnecessary psychosocial impairment, it is advisable to follow established recommended thresholds for terminating occlusion therapy.

Amblyopia↗

Prevalence of glaucoma after surgery for PHPV and infantile cataracts.

The prevalence of glaucoma associated with pediatric aphakia has been reported to range from 0% to 27%. Few studies have included a significant number of patients with persistent hyperplastic primary vitreous (PHPV) cataracts. The purpose of this study was to evaluate the prevalence of glaucoma in young children undergoing surgery for PHPV and infantile cataracts. The charts of all of the patients who underwent lensectomy/vitrectomy for infantile and PHPV cataracts at the University of Iowa Hospitals and Clinics between 1975 and 1992 were reviewed. Patients with ocular abnormalities that might predispose to glaucoma and patients with less than 6 months follow up were excluded. A total of 72 patients (109 eyes) were identified: 25 patients (26 eyes) with PHPV cataracts and 47 patients (83 eyes) with infantile cataracts. Mean age at time of surgery for both groups was 3.5 months. Mean follow up was 84.5 months for those with PHPV, and 76.9 months for those with infantile cataracts. Glaucoma developed in eight (32%) of the 25 patients with PHPV and in 15 (32%) of the 47 with infantile cataracts. Mean time to onset of glaucoma was 64.6 months for those with PHPV and 47.5 months for those with infantile cataracts (P = .70). Although there was no significant difference between the prevalence of postoperative glaucoma in those with infantile and those with PHPV cataracts, the prevalence of glaucoma in these patients is high. Children with aphakia should be closely monitored for glaucoma throughout their lives.

Cataract Extraction↗

[Color Doppler imaging diagnosis of ocular tumor].

OBJECTIVE: To study the characteristics of color Doppler imaging (CDI) of ocular tumors for the diagnosis and differential diagnosis of the tumors. METHODS: 92 cases with ocular tumor (105 eyes) were examined by CDI to observe the vasculature of ocular tumors, and the various parameters of blood vessels and blood flow in the lesions were measured. SAS software was used to analyze the results. RESULTS: Blood flow signal can be found in retinoblastoma, melanoma of choroid, angioma of choroid, angioma of optic nerve papilla, Coats disease, persistent hyperplastic primary vitreous (PHPV) and metastatic tumors of choroid, but we can not find any blood flow signal in choroid osteoma and melanocytoma of optic nerve papilla. The blood flow parameters of central retinal artery in choroidal melanoma and that of ophthalmic artery, central retinal artery and posterior ciliary artery in angioma of choroid are lower than normal (P < 0.05). In the comparison of the blood velocity in the posterior ciliary artery between choroidal melanoma and choroidal angioma, it was found that the former is much higher than the latter (P < 0.05). CONCLUSION: CDI is very important in the diagnosis and differential diagnosis of ocular tumors.

Adolescent↗

Childhood blindness and visual loss: an assessment at two institutions including a "new" cause.

PURPOSE: This study was initiated to investigate the causes of childhood blindness and visual impairment in the United States. We also sought a particular etiology--congenital lymphocytic choriomeningitis virus (LCMV)--which has been considered exceedingly rare, in a fixed target population of children, the severely mentally retarded. METHODS: We undertook a library-based study of the world literature to shed light on the causes of childhood blindness internationally and to put our data in context. We prospectively examined all consented children (159) at 2 institutions in the United States to determine their ocular status and the etiology of any visual loss present. One of the institutions is a school for the visually impaired (hereafter referred to as Location V), in which most of the students have normal mentation. The other is a home for severely mentally retarded, nonambulatory children (hereafter referred to as Location M). This institution was selected specifically to provide a sample of visual loss associated with severe retardation because the handful of cases of LCMV in the literature have been associated with severe central nervous system insults. Histories were obtained from records on site, and all children received a complete cyclopleged ophthalmic examination at their institution performed by the author. Patients at Location M with chorioretinal scars consistent with intrauterine infection (a possible sign of LCMV) had separate consents for blood drawing. Sera was obtained and sent for standard TORCHS titers, toxoplasmosis titers (Jack S. Remington, MD, Palo Alto, Calif), and ELISA testing for LCMV (Centers for Disease Control and Prevention, Atlanta, Ga). RESULTS: The diagnoses at Location V were varied and included retinopathy of prematurity (19.4%), optic atrophy (19.4%), retinitis pigmentosa (14.5%), optic nerve hypoplasia (12.9%), cataracts (8.1%), foveal hypoplasia (8.1%), persistent hyperplastic primary vitreous (4.8%), and microphthalmos (3.2%). The most common diagnosis at Location M was bilateral optic atrophy, which was found in 65% of the patients examined who had visual loss. Of these, the insults were most often congenital (42.6%), with birth trauma, prematurity, and genetics each responsible for about 15% of the optic atrophy. The second most common diagnosis was cortical visual impairment (24%), followed by chorioretinal scars (5%), which are strongly suggestive of intrauterine infection. Of 95 patients examined at Location M, 4 had chorioretinal scars. Two of these had dramatically elevated titers for LCMV, as did one of their mothers. One of the other 2 children died before serum could be drawn, and the fourth had negative titers for both TORCHS and LCMV. CONCLUSIONS: At both locations studied, visual loss was most often due to congenital insults, whether genetic or simply prenatal. The visual loss at Location V was twice as likely as that at Location M to be caused by a genetic disorder. The genetic disorders at Location V were more often isolated eye diseases, while those among the severely retarded at Location M were more generalized genetic disorders. Our study identified optic atrophy as a common diagnosis among the severely mentally retarded with vision loss, a finding that is supported by previous studies in other countries. In our population of severely retarded children, the target etiology of lymphocytic choriomeningitis virus was responsible for half the visual loss secondary to chorioretinitis from intrauterine infection. This is more common than would be predicted by the few cases previously described in the literature, and strongly suggests that LCMV may be a more common cause of visual loss than previously appreciated. We believe that serology for LCMV should be part of the workup for congenital chorioretinitis, especially if the TORCHS titers are negative, and that perhaps the mnemonic should be revised to "TORCHS + L." Childhood blindness and visual impairment are tragic and co

Adolescent↗

The roto-extractor in pediatric ophthalmology.

The Roto-Extractor, designed by Nicholas Douvas, M.D., was used by the authors in 66 eyes for cataracts, secondary membranes, and persistent hyperplastic primary vitreous. The average age of the patients with congenital cataracts was 2.4 years, for traumatic cataracts 16.4 years. The pupil wal cleared well in 63 of these eyes. There was no vitreous to the wound in any of the eyes. Unplanned iridectomies and prolonged inflammation were the major complications.

Adolescent↗