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PubMed2003

Increased risk of birth defects among children from multiple births.

BACKGROUND: Multiple births are increasing, and may be associated with birth defects. METHODS: To explore this relationship, data from the Virginia birth defects registry (VaCARES) was analyzed. RESULTS: During 1989-1998, a total of 44505 children from singleton births and 2258 children from multiple births were born with birth defects in Virginia. The risk of birth defects was significantly increased in children from multiple births as compared to singleton births (birth defect rate per 10000 live births: singleton 482.3, twin 922.0, triplet 1300.0, and quadruplet or higher 2222.2). Increased risk was observed for 39 of 86 diagnoses. The five diagnoses with the highest risk ratio per 10000 live births (RR) were: neurofibromatosis (RR, 12.80), retrolental fibroplasia (RR, 9.96), microphthalmos (RR, 5.24), pulmonary valve anomalies (RR, 5.00), and patent ductus arteriosus (RR, 4.68). A significantly reduced risk ratio for congenital hip dislocation was found in these children (RR, 0.54). In most multiple births, only one child was born with birth defects (81% in twin births, 71% in triplet births, and 56% in quadruplet and higher births). The diagnosis of birth defects might be concordant or discordant for children in which all siblings had birth defects. The children from multiple births who had birth defects were generally preterm and had significantly lower birth weight. A higher fatality and mortality rate and longer hospital stay were also observed. CONCLUSIONS: Overall, children from multiple births have an increased risk of birth defects.

Congenital Abnormalities↗
PubMed1995

The development of the fetal eye: in utero ultrasonographic measurements of the vitreous and lens.

Our objective was to establish nomograms for fetal eye measurements from 12 weeks' gestation by using transvaginal and transabdominal high-resolution ultrasound techniques. A prospective cross-sectional study was performed on 450 normal singleton pregnancies between 12 and 37 weeks' gestation. Vitreous and lens circumferences were measured by transvaginal ultrasonography until 17 weeks, and by abdominal ultrasound between 18 and 37 weeks' gestation. Regression analyses were used to create nomograms, and several transformations were done to obtain linearity. Eye measurements of 12 fetuses at risk for ocular disturbances were plotted on the constructed nomograms. Linear relationships were fitted between vitreous (r2 = 0.79) and lens (r2 = 0.88) circumferences and gestational age. In addition, there was a significant correlation between these measurements and the biparietal diameter. Data of the fetuses at risk showed that disturbances in ocular growth were associated mainly with abnormal cerebral development. These normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, ocular growth disturbances such as microphthalmos and anophthalmos.

Cross-Sectional Studies↗
PubMed1993

Persistent hyaloid vascular system in age-related cataract in a SAM strain of mouse.

The cataractogenesis of age-related cataract in a strain of Senescence-Accelerated Mouse; SAM-P/9 was investigated. In the mature cataract, funnel-shaped tissue of the persistent hyaloid vascular system extended from the retinal papilla and covered the extremely protruding posterior pole of the cataractous lens, as seen using a stereomicroscope. Longitudinal examination of the eyes with transparent lenses using an ophthalmoscope revealed that the hyaloid vascular system persisted in about 90% of the 5-week-old mice, at least unilaterally. The eyes with transparent lenses in some old mice retained this tissue and a retrospective study revealed that cataract never occurred in eyes without this tissue. Microphthalmos was not observed. Histologically, in the eyes with transparent lenses, the posterior lens capsule covered with a hyaloid vascular system became very thin but only a few lens fibre cells just inside the capsule had swelled. In the lens of the mature cataract or even with initial changes, the lens capsules ruptured. Electron microscopic examination showed that the persistent hyaloid vascular system was tissue consisting of capillary and mesenchymal cells. These observations suggest that the persistent hyaloid vascular system is a necessary but not sole factor for age-related cataract formation in SAM-P/9, and that other age-related factors probably have a role.

Aging↗
PubMed1984

Discrete subaortic stenosis as part of a short stature syndrome.

Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up part of a multisystem disorder. Both parents, offspring of two full siblings, had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father alone had aortic stenosis and inguinal hernia. The six offspring, aged from 13 to 28 years, were followed up for up to 8 years. While one of them was virtually normal, and one had only minor abnormalities, four siblings displayed clinical signs of progressive aortic stenosis. Of the two eldest siblings who eventually died, necropsy in one showed a discrete subaortic stenosis, which was hemodynamically proven in one and surgically corrected in another sibling. Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DSS in four, OLD, inguinal hernia and congested episcleral veins in three, kyphoscoliosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the deceased female. The prevalence of some of these traits in roughly three-quarters of the sibship was consistent with an underlying single gene abnormality in affected heterozygous parents. We proposed that this constitutes a new syndrome.

Adolescent↗
PubMed1987

Ocular malformations and lissencephaly.

Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus callosum, agenesis of the vermis and hypoplasia of the cerebellum. Muscular dystrophy is probably present in most of these patients. Within the last few years, over 20 cases with a complete autopsy have been described. The syndrome should be differentiated from other syndromes with retinal non-attachment and retinal dysplasia, and from syndromes with hydrocephalus or encephalocele without these ocular features.

Abnormalities, Multiple↗
PubMed1996

Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia.

Ophthalmic pathological findings of hydrolethalus, a midline malformation syndrome, were determined in three fetuses aborted between the 14th and 19th gestational week. The eyes were serially sectioned and analyzed using light microscopy and a panel of 13 antibodies to neuronal, glial, epithelial, and mesenchymal elements of the eye. The general morphological and antigenic development of the anterior segment, retina and choroid were normal, but some lens fibers were vacuolated and irregular in all eyes. A coloboma of the optic nerve was constant and corresponded in its severity to the systemic manifestations. It ranged from segmental dysplasia of the optic nerve head to a colobomatous orbital cyst with secondary microphthalmos and deranged development of the eye. Glial tissue extended through a defect in the sheaths of the optic nerve in three eyes, communicating with retinoblastic tissue in the orbit. Evidence of secondary optic nerve hypoplasia was present in all eyes, and a separate chorioretinal coloboma was present in one eye. Ocular anomalies should be considered one hallmark of hydrolethalus syndrome, and they may help to differentiate it from other overlapping malformation syndromes. In particular, colobomatous dysplasia and hypoplasia of the optic nerve seem to be typical of hydrolethalus syndrome. Histopathological studies of the eyes may help the neuropathologist in making the differential diagnosis of midline malformation syndromes.

Abnormalities, Multiple↗
PubMed2000

Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.

A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.

Anophthalmos↗
PubMed1999

Anomalies associated with Axenfeld-Rieger syndrome.

BACKGROUND: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify the associated anomalies in the syndrome. METHODS: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya City University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe's line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. RESULTS: The series consisted of 9 males and 12 females, ranging in age from 1 month to 41 years, mean 15.4+/-12.7 (SD) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited glaucoma. The accompanying systemic anomalies included 9 cases of dental anomalies, 5 of facial anomalies, and 3 of Alagille syndrome. CONCLUSIONS: All of the associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma.

Abnormalities, Multiple↗
PubMed1976

Bilateral renal agenesis with multiple congenital ocular anomalies.

A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings including microphthalmos, fetal chamber angle, persistent pupillary membrane , retinal avascularity, and prominent Bergmeister's papilla may have been related to the prematurity of the child.

Abnormalities, Multiple↗
PubMed1976

Peters' anomaly with the fetal transfusion syndrome.

Of identical twins with the fetal transfusion syndrome, the second twin who was anemic and hypoxemic from early gestation had Peters' anomaly by histologic examination of the host cornea excised during corneal transplantation at 7 months of age. The absence of a normally positioned lens with the incorporation of lens epithelium, capsule, and cortex within the posterior corneal stroma suggested a developmental disturbance in the separation of the lens from the cornea. The severe lenticular disturbance, microphthalmos, and fetal growth retardation in this case reflected early anemia and the resultant hypoxemia. To our knowledge, this is the first time that the fetal transfusion syndrome and Peters' anomaly have been associated.

Corneal Diseases↗
PubMed1985

Adverse ocular reactions possibly associated with isotretinoin.

A total of 261 adverse ocular reactions occurred in 237 patients who received isotretinoin, a commonly used drug in the treatment of severe cystic acne. Blepharoconjunctivitis, subjective complaints of dry eyes, blurred vision, contact lens intolerance, and photodermatitis are reversible side effects. More serious ocular adverse reactions include papilledema, pseudotumor cerebri, and white or gray subepithelial corneal opacities; all of these are reversible if the drug is discontinued. Reported cases of decreased dark adaptation are under investigation. Isotretinoin is contraindicated in pregnancy because of the many reported congenital abnormalities after maternal use (including microphthalmos, orbital hypertelorism, and optic nerve hypoplasia).

Acne Vulgaris↗
PubMed1987

Amniotic bands as a cause of ocular anomalies.

We examined nine patients with amniotic band syndrome who had systemic and ocular pathologic deformities. The most common ocular malformations were congenital corneal leukomas or acquired corneal opacities secondary to exposure and eyelid colobomas. The eyelid defects appeared to be extensions of facial clefts in these patients and were often located adjacent to the corneal opacities. Other anomalies included microphthalmos, strabismus, and hypertelorism. One patient had the typical peripheral and facial stigmata of the amniotic band syndrome in association with a coloboma of the left iris and retina.

Abnormalities, Multiple↗
PubMed1996

Detection of varicella-zoster virus in congenital varicella syndrome: a case report.

BACKGROUND: We studied the possibility of detecting varicella-zoster virus in formalin-fixed tissue samples from a still-born infant with congenital anomalies in order to verify the relationship with maternal varicella. CASE: A girl with hypoplasia of extremities, skin lesions, and microphthalmos was stillborn at 34 weeks' gestation. Her mother had had chickenpox between the 13th and 15th gestational weeks. Varicella-zoster virus DNA could be detected in formalin-fixed tissue samples of lungs, spleen, adrenal glands, bulbus oculi, and placenta by polymerase chain reaction (PCR). The method, with the use of primers from gene 29 encoding the major DNA-binding protein, proved to be highly sensitive. In addition, varicella-zoster virus DNA/antigens were localized in some organs by in situ hybridization/monoclonal antibodies. CONCLUSION: The PCR method should be included in the diagnosis of congenital varicella syndrome. The varicella-zoster virus can be detected in formalin-fixed tissue samples using this technique.

Abnormalities, Multiple↗
PubMed1995

Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors.

The clinical, neuroradiologic, and pathologic features of an unusual retinal and cerebral giant cell astrocytoma in a 24-year-old man with tuberous sclerosis are reported. The patient was referred at 3 years of age because of partial seizures from the first months of life, severe mental retardation, and left microphthalmos. The microphthalmic eye presented slow growth from 9 years of age and was enucleated at age 18 years because of exophthalmos and pain. At age 23 years, the patient experienced sudden and severe headache. Magnetic resonance imaging revealed a voluminous cystic tumor in the region of the foramen of Monro, lateral ventricle, and basal ganglia of the right cerebral hemisphere. Pathologic examination of the enucleated eye and of the cerebral tumor disclosed the same histologic findings in both locations, a giant cell astrocytoma.

Adolescent↗
PubMed2004

Porous polyethylene orbital implant in the pediatric population.

PURPOSE: To determine the incidence of complications of primary insertion of porous polyethylene orbital implant in the pediatric population. DESIGN: Interventional case series. METHODS: Prospective nonrandomized case series of 36 eyes of 36 patients under age 15 years who underwent primary placement of an anteriorly wrapped spherical porous polyethylene orbital implant from March 1998 to August 2002, with at least 17 months of follow-up. RESULTS: The mean age at the time of surgery was 4.6 years. The histopathologic diagnoses after enucleation included intraocular tumor in 22 patients, phthisis bulbi in eight patients, microphthalmos in three patients, Coats disease in two patients, and ruptured traumatic globe in one patient. Twelve patients (33%) had prior ocular surgery. At the time of enucleation, all patients underwent primary placement of spherical porous polyethylene orbital implant anteriorly wrapped with homologous sclera in 30 patients (83%) and autologous sclera in six patients (17%). The spherical implant size was 16 mm in one patient (3%), 18 mm in 10 patients ( 28%), and 20 mm in 25 patients (69%). The prosthesis was fitted after a mean interval of 5 weeks. After a mean follow-up of 44 months (range, 17 to 68 months), there was one case of pyogenic granuloma (3%) and one case of implant exposure (3%). There were no cases of implant extrusion, superior sulcus syndrome, orbital cellulitis, or significant inflammatory response. No porous polyethylene orbital implant was drilled for peg placement. CONCLUSIONS: Anteriorly wrapped primary porous polyethylene orbital implant in the pediatric population appears to be well tolerated with few complications.

Adolescent↗
PubMed1995

Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).

PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions. RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia.

Adolescent↗
PubMed1994

Factors affecting visual outcome after surgery for bilateral congenital cataracts.

The medical records of 33 patients with dense bilateral congenital cataracts were analyzed for factors affecting visual outcome. The average postoperative follow-up was 6.3 years. Of the 23 patients tested with optotypes (verbal children), 14 had visual acuities of 20/80 or better. Eight patients had binocular vision. Preoperative nystagmus, age at surgery, microphthalmos, and postoperative strabismus were not prognostically significant in visual outcome. Postoperative nystagmus was common and was not indicative of a poor visual outcome. Ocular anomalies, systemic anomalies, and postoperative complications were associated with a lower percentage of good postoperative visual acuities.

Cataract↗
PubMed1999

Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.

PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. METHODS: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. Magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.

Abnormalities, Multiple↗