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PubMed1988

Preliminary evaluation of the impact of the Chernobyl radiological contamination on the frequency of central nervous system malformations in 18 regions of Europe. The EUROCAT Working Group.

The teratological impact of radiological contamination from the Chernobyl accident was evaluated in relation to central nervous system and eye defects in 18 regional registries in nine countries of Western Europe. Six classes of anomaly were analysed: neural tube defects, arhinencephaly, microcephaly and brain reduction, hydrocephaly, anophthalmos and microphthalmos, and congenital cataract. Conceptions up to 31 August 1986 were grouped into two exposure cohorts. In cohort A the sensitive period of fetal development to radiation fell wholly or partly between 1 May and 30 June 1986. Cohort B included all cases exposed during their sensitive period on or after 1 May 1986. Observed frequencies of the six classes of anomaly in the exposed cohorts were compared with expected frequencies calculated from baseline rates for the period 1980-1985. The only significant increase was neural tube defects in Odense, Denmark (four cases observed in cohort A where 0.9 were expected). The results of the study do not show a general increase in the frequency of malformations in the countries of Western Europe. The evidence presented indicates that, in the regions studied, termination of pregnancies or invasive prenatal diagnostic examinations were not justified for women exposed during pregnancy.

Abnormalities, Radiation-Induced↗

PubMed1997

The importance of prenatal factors in childhood blindness in India.

The causes of visual loss in 1411 children attending schools for the blind in different geographical areas in India are described. Ninety-three percent (1318) of the children were severely visually impaired (SVI) or blind (i.e. corrected acuity in the better eye of <20/200 [<6/60]). In 60% of SVI/blind children vision loss was attributable to factors operating in the prenatal period, in 47% the prenatal factors were known and definite, and in 13% prenatal factors were the most probable causes. Hereditary retinal dystrophies and albinism were seen in 19% of SVI/blind children and 23% had congenital ocular anomalies. There were variations in the relative importance of different causes by state. The observed pattern of causes of visual loss is intermediate between those seen in industrialised countries and in the poorest developing countries. This suggests that strategies to combat childhood blindness in India need to address concurrently both preventable and treatable causes. The need for aetiological studies, particularly on anophthalmos and microphthalmos, is highlighted.

Abnormalities, Multiple↗

PubMed2003

Opposite effects of the maternal immune system activated by interleukin-1beta vs. PSK and OK432 on 5-azacytidine-induced birth defects.

Effects of stimulation of the maternal immune system on abnormal pregnancy induced with 5-azacytidine (5ACDR) administration at embryonic day 7.5 (E7.5) were examined in mice treated with recombinant interleukin 1beta (IL-1beta) at E6.5 (5ACDR + IL-1 at E6.5) or E9.5 (5ACDR + IL-1 at E9.5), OK432 (5ACDR + OK432) at E7.5 or PSK (5ACDR + PSK) at E7.5. Embryos from these dams were examined at E13.5. The frequency of dead and malformed embryos and number of malformations on each embryo increased in the 5ACDR + IL-1 at E6.5 groups compared with the 5ACDR-alone group. Adverse pregnancy outcomes in the 5ACDR + OK432 and 5ACDR + PSK groups were less frequent than in the 5ACDR-alone group. The frequency of exencephaly, facial cleft, eye anomalies (micro- or anophthalmos), and micrognathia significantly increased in the 5ACDR + IL-1 groups, in contrast, that of exencephaly decreased in the 5ACDR + OK432 and 5ACDR + PSK groups compared with the 5ACDR-alone group. The phagocytes on the exencephalic surface drastically increased in the 5ACDR + IL-1 groups, and they often appeared to ingest the migrating neuroepithelial cells. Such findings, however, were rarely observed in the 5ACDR-alone, 5ACDR + OK432 and 5ACDR + PSK groups. Thus, administration of IL-1beta to the abnormal pregnant dams increased the mortality and severity of the malformations in the embryos caused by 5ACDR, whereas PSK or OK432 decreased them. These results suggest that the different modes of activation of the maternal immune system may exert alternative or opposite effects on teratogenic pregnancy.

Abnormalities, Multiple↗

PubMed2006

Changing pattern of childhood blindness in Maharashtra, India.

AIM: To determine the causes of severe visual impairment and blindness in children in schools for the blind in Maharashtra, India. METHODS: Children aged <16 years with a visual acuity of <6/60 in the better eye, attending 35 schools for the blind were examined between 2002 and 2005, and causes were classified using the World Health Organization's system. RESULTS: 1985 students were examined, 1778 of whom fulfilled the eligibility criteria. The major causes of visual loss were congenital anomalies (microphthalmos or anophthalmos; 735, 41.3%), corneal conditions (mainly scarring; 395, 22.2%), cataract or aphakia (n = 107, 6%), and retinal disorders (mainly dystrophies; n = 199, 11.2%). More than one third of children (34.5%) were blind from conditions which could have been prevented or treated, 139 of whom were referred for surgery. Low vision devices improved near-acuity in 79 (4.4%) children, and 72 (4%) benefited from refraction. No variation in causes by sex or region was observed. CONCLUSIONS: Congenital anomalies accounted for 41% of blindness, which is higher than in a similar study conducted 10 years ago. Corneal scarring seems to be declining in importance, low vision and optical services need to be improved, and research is needed to determine the aetiology of congenital anomalies.

Adolescent↗

PubMed1985

Self-inflicted corneal injuries in children with congenital corneal anaesthesia.

Severe corneal ulceration related to self-inflicted injury in the presence of congenital corneal anaesthesia is described in four boys under 2 1/2 years of age. The ulcers had failed to heal until it was recognised that the children were scratching their own eyes. The application of arm splints allowed rapid healing. Although corneal ulceration is a recognised complication of congenital corneal anaesthesia, this preventable cause of the ulceration has not previously been recognised. In two cases there were isolated recurrences which healed quickly with the reapplication of splints. All four children had good vision initially, and, although there were no overt gross development abnormalities, two had neurological signs on detailed investigation suggesting cerebellar or brain stem malformation and one had unilateral anophthalmos, talipes equinovarus, and patent ductus arteriosus. All the children showed normal intellectual development. Whether the eye scratching behaviour was the primary cause of the ulceration or merely an aggravating factor, the identification of this abnormal behaviour is important in any child with idiopathic corneal ulceration, as even in the presence of congenital corneal anaesthesia the eyes heal quickly with effective splinting of the elbows. It is therefore important to test sensation of the cornea and face and to consider the possibility of self-inflicted injury in children with refractory corneal ulceration, as in our cases there were no other consistent diagnostic features.

Child, Preschool↗

PubMed1997

A case of Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

Abnormalities, Multiple↗

PubMedDate not supplied

Is homelessness a risk factor for eye disease? Results of a German screening study.

BACKGROUND: There is general agreement on the presence of a correlation between poverty and impaired health. However, only scarce data are available on whether this also applies to the incidence of eye disease. The present study was carried out to evaluate the prevalence of ocular disease in homeless people in Germany. METHODS: 107 homeless people (97 male, 10 female; mean age 49 years, range 18-81 years) treated in specialised social service institutions were investigated prospectively according to a standardised ophthalmological screening protocol. This comprised visual acuity, assessment of pupillary light reaction, intra-ocular pressure, slit lamp examination as well as funduscopy. RESULTS: The median best-corrected visual acuity of all 213 eyes examined was 0.8 (range: no light perception to 1.25). 74 eyes of a subgroup of 50 patients showed one or more of the following disorders: 32% of the patients suffered from external eye disease, 8% exhibited a cataract associated with a visual acuity of 0.63 or below. 6% of the patients had optic nerve atrophy, and 4% suffered from amblyopia. Diabetic retinopathy as well as age-related macular degeneration were detected in 2%, while anophthalmos, lid malposition and traumatic choroidal rupture were noted in 1% of patients. The median visual acuity measured in these 74 eyes was 0.5 (range: no light perception to 1.25), which differs significantly from the acuity of 0.8 in the entire study population (p < 0.001). The prevalence of legal blindness according to WHO criteria was 2%. CONCLUSIONS: The present study revealed an unexpectedly high prevalence of optic nerve atrophy in homeless people. The prevalence for cataract and legal blindness was slightly higher than in representative epidemiological investigations. Thus, homelessness seems to be correlated with an increased ocular morbidity. As best-corrected visual acuity differed significantly between eyes with and those without eye disease, the assessment of this parameter may serve as a cost-effective first-stage screening method.

Adolescent↗

PubMedDate not supplied

Transvaginal sonographic diagnosis of cataract in a fetus.

Transvaginal ultrasonography is a relatively new technique for visualizing the orbits in a fetus of 4 to 5 cm. At fifteen weeks of gestation it is possible to recognize the lenses and the hyaloid arteries in the eyes, to diagnose structural malformations such as anophthalmos, microphthalmos, buphthalmos and moderate to severe cataract. In most cases cataracts were associated with intracranial defects. We describe a case where the sonographic diagnosis of fetal cataract was confirmed by histopathological examination. A 27-year-old woman had a routine transvaginal sonography at 15 weeks' normal gestation. Microphthalmos without a hyaloid artery and disorganization of the anterior chamber and lens consistent with cataract were demonstrated in the fetal left eye. In accordance with the parents' decision, the pregnancy was terminated a week later. Autopsy of the fetus was done and serial sections of the left eye were studied by light microscopy. Histopathological examination verified the sonographic diagnosis of fetal cataract in a microphthalmic eye. Associated findings included malformation of the anterior segment and retinal dysplasia.

Abortion, Induced↗

PubMed1992

Update of sporadic microphthalmos and coloboma. Non-inherited anomalies.

The majority of patients with microphthalmos and colobomas have genetic disorders. This is a survey of non-inherited, sporadic microphthalmos. Such cases may occur in the Goldenhar, CHARGE and VATER associations; it may also be due to teratological agents, for instance maternal ingestion of drugs, maternal infection, fever or irradiation. In these cases it is possible that neural crest cell development is abnormal. Some drugs, for instance retinoic acid are regulators of Hox genes which control an ordered sequence of differentiation; coloboma or microphthalmos may appear if deregulation occurs. Large choristomas of the anterior segment of the eye may be associated with microphthalmos or anophthalmos. Encephaloceles or orbital tumours may deform the growing eye and are another cause of non-inherited microphthalmos.

Abnormalities, Drug-Induced↗

PubMed2002

Goldenhar's syndrome: case report.

A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed.

Abortion, Habitual↗

PubMed1999

A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities including microcephaly, anophthalmos and left fixed talipes. The child has shown marked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocation, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detected in her father. Accurate genetic counselling and the opportunity for early prenatal diagnosis can now be offered to this family.

Abnormalities, Multiple↗

PubMed2001

[Orbital development after enucleation without orbital implant in early childhood].

PURPOSE: To evaluate the development of orbital volume in five adults who underwent enucleation without orbital implant during early childhood, using reconstructed computed tomography(CT) images. MATERIALS AND METHODS: The orbital volume of 5 adults who underwent enucleation without orbital implants during early childhood was measured using CT images, and the results were compared between the anophthalmic orbit and the unaffected orbit in each case. The shape of maldevelopmental orbit and the relationship between orbital development and replacement of the prosthesis were also investigated. RESULTS: Orbital development in patients who underwent enucleation without orbital implant during early childhood was delayed in comparison with the unaffected orbit, and the delayed development was especially remarkable at the part of orbit corresponding to the equator of the eyeball. Maldevelopment of the orbit was severer in cases without replacement of the prosthesis than with it. CONCLUSION: For the development of orbital volume in anophthalmos after enucleation, orbital volume in place of the eyeball is required. Therefore, orbital implantation at the time of enucleation and replacement of the prosthesis with larger ones as the body grows are important.

Adult↗

PubMed2000

[Application of polyester fiber heart patches to secondary intraorbital implantation of hydroxyapatite spheres].

OBJECTIVE: To observe the effect of intraorbital implantation of hydroxyapatite spheres wrapped with polyester fiber heart patches. METHOD: According to the rectus contraction points four rectus were found and the rectus valves were created in anophthalmos. Then the hydroxyapatite sphere wrapped by the polyester fiber heart patch was inserted in the orbit. RESULT: There were 13 cases in this group. Of them 11 patients showed very good operative results, Local poor healing of bulbar conjunctiva and fascia occurred in 2 patients. The wound in one patient healed very well after a simple repairing operation and in the other the wound healed spontaneously without any special treatments. CONCLUSION: The effect of secondary intraorbital implantation of hydroxyapatite spheres wrapped by polyester fiber heart patches is positive. The polyester fiber heart patch is safe, reliable, cheap, very convenient in use and easy to obtain. It is a better substitute for sclera which is used to wrap the HA sphere.

Adult↗

PubMed2002

[Synthetic plastic surgery for hemilateral facial deformity after retinoblastoma operation].

OBJECTIVE: To evaluate the effect of correcting complex deformity of the orbital region and contraction of the eye socket that caused by enucleation and postoperative irradiation for the treatment of retinoblastoma. METHODS: Depressive deformity of the orbitozygoma was corrected, and a large permanent eye socket was achieved in two-stage operation. First-stage surgery: Orbitozygomatic deformity reconstruction with hydroxyapatite (HA) and a temporoparietal fascial flap and a HA implant for correction of anophthalmos. Second-stage: Free radial forearm flap was adopted for eye socket reconstruction. RESULTS: Excellent cosmetic results of this method in 8 cases were demonstrated. CONCLUSION: This method is effective for management of complex deformities of orbitozygoma and contraction of eye socket.

Adolescent↗

PubMed1991

First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases.

Ocular cataract, hypertelorism, hypotelorism, anophthalmos, and microphthalmos are rare malformations commonly associated with other fetal anomalies. Previously, ocular malformations were detected only after mid-gestation. Transvaginal sonography allows the detection of many structural fetal anomalies. We describe the case reports of eight ocular anomalies among 1600 fetal screenings by transvaginal sonography at 12-18 weeks' gestation. Severe cataract was correctly diagnosed by transvaginal sonography. However, transvaginal sonography failed to detect moderate cataract in a case of repeat cataract in a subsequent gestation. Anophthalmia may sometimes be secondary to a degenerative process in middle and late pregnancy. In five of the eight described cases, the eye malformations were associated with defects of the central nervous system.

Adult↗

PubMed1989

[The results of cosmetic prosthesis in patients in relation to the method of formation of a moveable base for the prosthesis following removal of the eyeball].

The paper analyses remote results of cosmetic prosthesis (more than 4 months) in 107 patients with anophthalmos. For formation of the stump after enucleation different methods were used: simple enucleation; enucleation with suturing of rectus muscles to the conjunctiva of the eye ball; enucleation followed by introducing a lavsane implant into the cavity of the Tenon's capsule; evisceration followed by introducing a lavsane implant into the cavity of the scleral disc. The best results were achieved in groups of patients when enucleation was followed by plastic formation of a mobile volume stump using a vascular wicker, crimped lavsane prosthesis.

Adolescent↗

PubMed1985

Acquired ptosis: a reexamination of etiology and treatment.

The etiology of acquired ptosis is almost always disinsertion of the levator aponeurosis from the tarsal plate. As opposed to congenital ptosis, where levator resection is required to compensate for muscle weakness, acquired ptosis can be consistently treated with simple levator reattachment. This study examines both the diagnostic and anatomic etiology of acquired ptosis in 80 consecutive patients. Although dermatochalasis, trauma with orbital hematoma, orbital swelling, anophthalmos, and multiple other diverse clinical etiologies were responsible for this condition, the anatomic etiology was identical in 79 of the patients--levator disinsertion. Cadaver studies demonstrate that the levator aponeurosis inserts into the tarsal plate through multiple flimsy, fibrous attachments. Any condition that results in either excess weight to the eyelids or excess muscular pull can disrupt these fibers. A modification of the external approach is described that allows rapid identification of the levator aponeurosis and permits accurate repair. Complete repair was achieved in the majority of the cases, and there were no instances of overcorrection.

Adolescent↗

PubMed1985

Diagnostic survey at Yamanashi School for Blind: importance of heredity.

The commonest cause of blindness among the 67 patients at the Yamanashi School for the Blind was congenital cataract (16). Next was retinitis pigmentosa or choroido-retinal degeneration (8), then retinopathy of prematurity (7). Congenital glaucoma and brain tumor each contributed five. Four were due to microphthalmia/micro-cornea and five to high myopia. Direct ocular trauma caused three. Two each were attributable to complete albinism, aniridia, congenital nystagmus and bilateral retinoblastoma. Single cases each of anophthalmos, Behçet's disease, Hallerman-Streiff syndrome, hydrocephalus, macular degeneration and optic atrophy were recorded. 41.8% of all cases were "very probably" hereditary and a further 10.4% "probably" so. 12.2% of the hereditary cases had consanguineous parents. An autosomal recessive (AR) cause is the likeliest explanation for the majority of the nonenvironmental causes (42.9% very probably AR and 14.3% probably AR), so that the possibility of prevention by genetic counseling was limited, but should have been given as soon as the first affected child was born. Parental consanguinity supports an autosomal recessive cause. 10.2% are very definitely due to an autosomal dominant gene; in them, counseling may well also have had a limited effect but might have prevented the birth of one or both of the siblings with aniridia inherited from the mother, and at least two, if not all three, of the three siblings with congenital cataract also inherited from the mother.

Adolescent↗