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Results for “Persistent Hyperplastic Primary Vitreous”

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PubMed1987

Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases.

Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome is a rare disorder encompassing a triad of brain, eye, and muscle abnormalities. The principal central nervous system features are cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glial-mesodermal proliferation within the leptomeninges, neuronal heterotopias, hypoplasia of nerve tracts, hydrocephalus, and, occasionally, encephalocele. Ocular abnormalities include microphthalmia, cataract, immature anterior chamber angle, retinal dysplasia with or without retinal detachment, persistent hyperplastic primary vitreous, optic nerve hypoplasia, and coloboma. Skeletal muscle findings include fiber splitting, variable fiber size, and endomysial fibrosis. Recent evidence has shown that COD-MD syndrome may be identical to the Walker-Warburg (also known as Warburg) syndrome. Fukuyama congenital muscular dystrophy is similar to the COD-MD and Walker-Warburg syndromes, although the ocular manifestations are less severe. We report the histopathologic findings in two siblings with multiple features of COD-MD syndrome.

Brain↗

PubMed1989

Complex microphthalmos.

Forty patients were diagnosed as having complex microphthalmos on the basis of a malformed globe with a total axial length measurement at least 2 SDs below the mean for age-similar controls. Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and 3, complex malformations due to ipsilateral facial malformations. Measurements of total axial length indicated that complex microphthalmos was congenital and that postnatal growth of the malformed eye was similar to that of normal eyes. In most patients the anterior segment length was normal, while in all patients the posterior segment length was at least 2 SDs below the mean. Corneal diameter correlated significantly with total axial length (r2 = .57) and decreased linearly as total axial length decreased. In most patients in whom measurements were obtained, the lens and corneal power were increased, thereby compensating for decreased total axial length. We propose that inadequate production of secondary vitreous is the cause of the microphthalmos, given that the posterior segment was disproportionately reduced in size and the secondary vitreous is its predominant component. Evidence that each of the various ocular malformations can influence the production of secondary vitreous is presented.

Abnormalities, Multiple↗

PubMed1992

Peters' anomaly and associated congenital malformations.

We reviewed the clinical findings in 29 patients with Peters' anomaly. There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous system in four patients, genitourinary malformations in four patients, cleft lip/palate in three patients, hearing loss in three patients, spinal defects in two patients, and single cases of other less common defects. One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity. Colobomatous microphthalmia was present in seven patients, and persistent hyperplastic primary vitreous in three patients. Ten patients developed glaucoma, and three had retinal detachment unrelated to ocular surgery. Peters' anomaly may be due to a developmental field defect, or the complex ocular and systemic malformations may be the result of a contiguous gene syndrome or of a defective homeotic gene controlling the development of the eye and other body structures.

Abnormalities, Multiple↗

PubMed1994

Use of the hydroxyapatite ocular implant in the pediatric population.

OBJECTIVES: There is always a hesitancy to use an ocular implant after enucleation in children, especially in cases of eyes enucleated for retinoblastoma. DESIGN AND SETTING: In this prospective study, we report our experience of 60 consecutive cases in which we used the hydroxyapatite ocular implant after enucleation in children younger than age 10 years. RESULTS: The mean age at the time of enucleation and hydroxyapatite placement was 27 months (range, 1 to 108 months). The histopathologic diagnoses after enucleation included retinoblastoma in 51 patients, endophthalmitis in two patients, persistent hyperplastic primary vitreous in two patients, neovascular glaucoma resulting from Coats' disease in one patient, uveal melanoma in two patients, undifferentiated intraocular neoplasm in one patient, and blind painful traumatized eye in one patient. After a mean follow-up of 19 months (range, 6 to 36 months), two cases of conjunctival erosion and five cases of conjunctival thinning were recorded. These problems were associated with a flat posterior prosthesis vault in all seven cases. There were no cases of orbital cellulitis, implant extrusion, or implant migration. All children showed good small-degree prosthesis motility despite the lack of peg placement. Only one older child underwent drilling and peg placement and she had excellent small- and large-degree prosthesis motility. We generally postpone the drilling and peg placement stage and tedious prosthesis revision in children until they are able to fully cooperate with the ocularist. CONCLUSIONS: The hydroxyapatite ocular implant is well tolerated and provides good prosthesis motility in children with few complications. It is critical for the ocularist to fit the prosthesis comfortably with a high posterior vault.

Child↗

PubMed2004

Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.

In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Abnormalities, Multiple↗

PubMed2003

Regulation of AP-2 and apoptosis in developing eye in a vitamin A-deficiency model.

BACKGROUND: Eye malformations induced by vitamin A deficiency (VAD) during pregnancy is a major part of the VAD syndrome. But the signaling role of retinoic acid (RA) in ocular tissues is poorly understood. The goal of this study was to determine the role of retinoic acid receptor (RAR) in the development of eye and the possible signaling pathway. METHODS: Time-pregnant mice were treated with 1 mg/kg dose of RAR antagonist AGN193109 (AGN) on 8 days postcoitum (dpc). Newborn mice and 18-dpc embryos were used for phenotype studies. Embryonic eyes of 18 dpc were sectioned for histological study. With immunohistochemistry and TUNEL method, we monitored the alternation of AP-2 expression and apoptotic cells in sections of 12- to 18-dpc embryos. RESULTS: Treatment with AGN resulted in severe craniofacial and eye malformations in virtually all exposed fetuses. The ocular abnormalities included severe defects in anterior segments such as focal corneal thickening and eversion, absence of corneal endothelium and anterior chamber, differentiation defects of lens, as well as defects in posterior segment such as persistent hyperplastic primary vitreous and retinal eversions. The percentage of AP-2-positive cells in ocular tissues on 12, 14, and 18 dpc was significantly (P < 0.05) reduced in AGN-treated eyes compared to control ones. Additionally, the number of apoptotic cell was significantly (P < 0.05) increased in AGN-treated eyes. CONCLUSIONS: The blocking of RAR function can lead to ocular abnormalities that depict partial phenocopies of vitamin A-deficiency syndrome. Both an inhibition of expression of AP-2 and an enhancement of cell death contribute to AGN-induced ocular defects.

Adaptor Protein Complex 2↗

PubMed1994

Optic nerve hypoplasia: comparative effects in children and rats exposed to alcohol during pregnancy.

Children with the fetal alcohol syndrome often have ocular anomalies. These include abnormalities of the eyes and adnexa (strabismus, blepharoptosis, epicanthus), as well as intraocular defects (cataract, glaucoma, persistent hyperplastic primary vitreous, retinal and optic nerve anomalies). Based on the clinical results in an ophthalmological study of a group of Swedish children with the fetal alcohol syndrome, in which optic nerve hypoplasia was found in up to one-half of the group, an experimental study was designed in rats pre- and perinatally exposed to alcohol by means of a liquid diet. The optic nerve was seriously affected. Macroglial cells and optic axons were ultrastructurally damaged. The diameter of the optic nerve cross section, glial cell nuclear area, axonal diameter, and the total number of optic axons showed significantly lower values in the alcohol-exposed group than in the controls. In addition, the retina from the alcohol-exposed animals displayed significantly lower values of the retinal thickness and ganglion cell nuclear volume, as compared to the controls. Thus, rats exposed to alcohol in utero developed hypoplasia of the optic nerve similar to the findings in children born to alcoholic mothers. This strongly supports the hypothesis that prenatal alcohol exposure may adversely affect the development of the optic nerve.

Animals↗

PubMed1992

The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age.

The ocular pathology of Norrie disease was studied for the first time in a fetus of 11 weeks' gestation, following prenatal diagnosis using genetic markers for Norrie disease and elective abortion. The eyes were histologically normal, with no evidence of primary neuroectodermal maldevelopment of the retina, previously postulated to be the cause of the ocular changes. We believe that the retinal and other manifestations of Norrie disease are the result of a primary abnormality of vascular proliferation, probably in relation to persistent hyperplastic primary vitreous after approximately 14 weeks' gestation. We postulate that the ocular and otological effects of Norrie disease may be due to a genetically mediated abnormality of secretion of, or sensitivity to, angiogenic growth factors at endodermal-neuroectodermal interfaces during fetal and postnatal development.

Abortion, Legal↗

PubMed1992

High resolution ultrasound with Doppler: a diagnostic adjunct in orbital and ocular lesions in children.

Twenty-six infants and children with orbital and ocular pathology were examined with ultrasound (US) utilizing real-time imaging and Duplex Pulsed Doppler evaluation. Twenty-two of these patients underwent concurrent orbital computed tomography (CT) and two had magnetic resonance imaging (MRI). Orbital and periorbital lesions included hemangioma, dermoid, lymphangioma, rhabdomyosarcoma, encephalocoele and abscess. Ocular lesions included infection, trauma, retinal detachment, retinoblastoma, Coat's disease, and persistent hyperplastic primary vitreous. High resolution US with Doppler provided unique diagnostic information in patients with penetrating ocular trauma, orbital and periorbital masses, and intraocular structural abnormalities. High resolution US examination of the eye and periorbital tissues is readily performed using widely available equipment and often delineates subtle structural abnormalities not shown by CT or MRI.

Child↗

PubMed2006

Coumarin embryopathy in an extremely low birth weight infant associated with neonatal hepatitis and ocular malformations.

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.

Abnormalities, Drug-Induced↗

PubMed2004

Genitourinary anomaly in congenital varicella syndrome: case report and review.

We describe a 1-year-old boy with congenital varicella syndrome who had vesicoureteral reflux (VUR) and neurogenic bladder. His mother had varicella during the 3rd month of pregnancy. At birth the patient presented with right microphthalmia, right microcornea, and persistent hyperplastic primary vitreous of the right eye. He had chronic constipation from 3 months of age. He had urinary tract infection at 1 year of age. Urological investigation revealed left grade V VUR and neurogenic bladder. His varicella zoster virus IgG titer measured by ELISA was 39.4 antibody index (normal <0.1). He had repeated episodes of urinary tract infection despite antibiotic prophylaxis and clean intermittent catheterization, and underwent a uretero-vesiconeostomy at 2 years of age. Maternal infection during early pregnancy and the serological evidence of varicella zoster IgG antibodies without a history of varicella after birth led to the diagnosis of congenital varicella syndrome. Urogenital anomalies have previously been described in 14 cases of congenital varicella syndrome. Most of these patients had neurogenic bladder, the pathophysiology of which could be explained by the known neurotropic nature of the virus.

Abnormalities, Multiple↗

PubMed2006

Persistent fetal vasculature associated with orbital lymphangioma.

Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling or proptosis and are not associated with intraocular abnormalities. We report the case of a male infant with PHPV and ipsilateral orbital lymphangioma.

Diagnosis, Differential↗

PubMed2006

Postoperative surface deposits on intraocular lenses in children.

PURPOSE: To report the clinicopathologic features of 4 intraocular lenses (IOLs) composed of 3 different hydrophilic biomaterials explanted from children who had postoperative opacification of the IOL optic. SETTING: David J Apple, MD, Laboratories for Ophthalmic Devices Research, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA. METHODS: The IOLs were explanted 20, 11, 22, and 25 months postoperatively from children aged 10, 3, 36, and 20 months old, respectively, at IOL implantation. Clinical data were obtained to correlate the findings with possible associated risk factors. The explanted IOLs were examined by gross and light microscopy. They were further analyzed with a stain for calcium, alizarin red 1%. Scanning electron microscopy and energy dispersive X-ray spectroscopy (EDS) were also performed. RESULTS: The primary reason for cataract surgery in Case 1 and Case 2 was persistent hyperplastic primary vitreous (PHPV); 1 patient received a B-Lens IOL (Hanita) and the other a Centerflex IOL (Rayner). The primary reason in Case 3 was familial bilateral congenital cataract and in Case 4, rubella cataract; both patients received a Hydroview IOL (Bausch & Lomb). All 4 IOLs had surface deposits on the optic, but the morphology of the deposits on the B-Lens and Centerflex IOLs was different than that in previously reported cases. The deposits in all four cases stained positive with alizarin red and consisted of calcium and phosphorus when imaged with EDS. CONCLUSIONS: Calcified deposits on 2 Hydroview IOLs explanted from children were similar to those seen in adults with the same IOL. The deposits on the B-Lens and Centerflex IOLs were probably secondary to a breakdown of the blood-aqueous barrier caused by preexisting PHPV.

Anthraquinones↗

PubMed2006

Role of INK4a locus in normal eye development and cataract genesis.

The murine INK4a locus encodes the critical tumor suppressor proteins, p16(INK4a) and p19(ARF). Mice lacking both p16(INK4a) and p19(ARF) (INK4a-/-) in their FVB/NJ genetic backgrounds developed cataracts and microophthalmia. Histopathologically, INK4a-/- mice showed defects in the developmental regression of the hyaloid vascular system (HVS), retinal dysplasia, and cataracts with numerous vacuolations, closely resembling human persistent hyperplastic primary vitreous (PHPV). Ocular defects, such as retinal fold and abnormal migration of lens fiber cells, were observed as early as embryonic day (E) 15.5, thereby resulting in the abnormal differentiation of the lens. We also found that ectopic expression of p16(INK4a) resulted in the induction of gammaF-crystallin, suggesting an important role of INK4a locus during mouse eye development, and also providing insights into the potential genetic basis of human cataract genesis.

Animals↗

PubMed2003

Lenticular fibroxanthomatous nodule.

PURPOSE: To describe two patients with unique lenticular nodular proliferations. DESIGN: Observational case reports. METHODS: The clinical histories and pathologic findings of two patients with lenticular nodular proliferations were reviewed. RESULTS: One patient with persistent hyperplastic primary vitreous and another patient with trauma developed lenticular nodular proliferations. The nodules were vascularized collections of foamy histiocytes, multinucleated cells, lens capsule, and lens epithelium that had undergone fibrous metaplasia. The lesions were classified as lenticular fibroxanthomatous nodules. CONCLUSIONS: A lenticular fibroxanthomatous nodule is a unique clinicopathologic entity that should be differentiated from Soemmerring ring, Elschnig pearl, and other simulating entities such as juvenile xanthogranuloma.

Adult↗

PubMed1983

Autosomal recessive eye and brain anomalies: Warburg syndrome.

Two siblings are reported who appear to have an autosomal recessive disorder of eye and central nervous system anomalies. The findings in fourteen previously described and similarly affected patients are summarized. Ocular anomalies include microphthalmos, megalocornea, the Peter anomaly, cataract, coloboma, persistent hyperplastic primary vitreous, and retinal detachment with retinal dysplasia. Central nervous system malformations include agyria-pachygyria, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, and hydrocephalus. We suggest that this disorder be known as Warburg syndrome.

Brain↗

PubMedDate not supplied

The morphology and natural history of childhood cataracts.

The morphology of congenital cataract reflects a combination of the timing and nature of the cause, the anatomy of the lens including its capsule, its development, and changes that take place with time. Morphology may variably affect prognosis, give a clue to the etiology and the age of onset and, in an isolated case, sometimes suggest heritability. The spectrum of morphological variations is enormous and can be complex. A comprehensive approach is to classify the variations according to the area of the lens involved, and sub-dividing them by a detailed description of the shape and appearance. Each specific morphological type is then analyzed determining the etiology, visual prognosis, and management. The use of gene markers has allowed many of these variations to be identified and categorized. Cataracts in childhood can involve the whole lens, in which case they are called total, Morgagnian, or disk-like. They can affect only the center of the lens: lamellar, nuclear, oil droplet, cortical, or coronary. They can be anterior: anterior polar, anterior subcapsular, or anterior lenticonus. The posterior aspect of the lens can also be affected in different fashions: Mittendorf's dot, posterior lenticonus, posterior cortical cataracts, or posterior subcapsular. There are five more forms that must be described separately: punctuate lens opacities, sutural cataracts, coralliform or crystalline, wedge-shaped, and persistent hyperplastic primary vitreous.

Cataract↗

PubMed2000

High levels of binocular function are achievable after removal of monocular cataracts in children before 8 years of age.

OBJECTIVE: To investigate the visual acuity and binocular function results achieved in children who had monocular cataracts removed before 8 years of age. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Clinical records of 171 patients who underwent a unilateral cataract removal between January 1986 and 1996 were reviewed retrospectively. Seventy-four eyes were included in the study: 19 congenital, 11 developmental, 19 posterior lenticonus, 19 traumatic, and 6 complicated cataracts. Patients with less than 2 years of follow-up; eyes with cataracts resulting from retinoblastoma; prematurity; and those associated with dense corneal scars, lens dislocation, and persistent hyperplastic primary vitreous were excluded. INTERVENTION: Visual acuity was measured by means of age-appropriate tests such as the fixation pattern, Allen object recognition cards, isolated optotypes with the Sheridan Gardiner test, and Snellen letters. Sensory fusion was assessed with the Worth 4-dot test, and stereo acuity was assessed with the Titmus stereo test. MAIN OUTCOME MEASURES: Cataracts were classified regarding type, extent, age at onset, duration of the opacity, age at surgery, method of removal, development of secondary membrane, form of optical rehabilitation, and presence of strabismus. Visual acuity levels between 6/6 and 6/12 were considered "good." Fusion of the Worth 4-dot test at distance and near, and presence of stereo acuity of 100 seconds of arc or better were considered "good" binocular function. Multiple logistic regression analysis was used to define factors that correlated with achieving good visual outcome. RESULTS: Visual acuity was 6/12 or better in 27 (36.5%) eyes. However, good binocular function was achieved in only 11 of these 27 patients. Results of univariate analysis showed that later age at onset of cataract and absence of strabismus were significant for good visual acuity and binocular function. The presence of strabismus increases the risk of not achieving good visual acuity by 5.45-fold. CONCLUSIONS: Good visual acuity and binocular function can be achieved after removal of monocular cataracts in visually immature children. Patients with strabismus at presentation or during the follow-up period have the least chance of achieving a good sensory result.

Age of Onset↗