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PubMed1998

Eye malformations associated with treatment with carbamazepine during pregnancy.

Four children are presented and their eye malformations described. One girl had bilateral anophthalmos, a boy and a girl had bilateral severe microphthalmos, and a boy had a unilateral optic disc coloboma. The mothers of all for children were treated with carbamazepine during pregnancy. The teratogenic effect of carbamazepine and its likely role in the genesis of the eye malformations is discussed.

Abnormalities, Drug-Induced↗

PubMed2004

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.

Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.

Abnormalities, Multiple↗

PubMedDate not supplied

Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies.

The fetal alcohol syndrome (FAS) is caused by maternal alcohol misuse during pregnancy and is characterized by pre- and postnatal growth retardation, central nervous system anomalies and a wide spectrum of malformations, the most typical being the craniofacial features. The eye is a sensitive indicator of the adverse effects of environmental agents, and the ocular abnormalities observed in children with FAS indicate that the developing eye is particularly affected by alcohol. The external signs include short palpebral fissures, telecanthus, epicanthus, blepharoptosis, microphthalmos and strabismus. Within the eyes, the signs and symptoms most commonly detected are optic nerve hypoplasia, increased tortuosity of the retinal vessels and impaired vision. Experimental models of FAS, closely reproducing characteristics of human FAS, have contributed to our understanding of the cellular and molecular basis of the action of alcohol in the developing visual system. As there is such a high frequency of eye signs and symptoms in FAS, an ophthalmological examination is important when making the diagnosis, as well as in the management of the disorder. Current knowledge of ophthalmological involvement in FAS in humans is presented, as well as a review of findings using animal models specially designed for studying ocular developmental changes induced by alcohol.

Animals↗

PubMed2004

Oculometric characteristics of extreme hypermetropia in two faroese families.

PURPOSE: To describe and analyze the oculometric features of small eyes with high hypermetropia in two Faroese families, with emphasis on refractive components. METHODS: Members of the two families (N=40; age, 1 to 77 years), including 15 cases of extreme hypermetropia (+7.5 to +19.25 D), had an ophthalmic evaluation including refractometry, keratometry, and axial ocular measurements using A-scan ultrasound. Eye-wall thickness was assessed using B-scan. Nonparametric statistics were used, mainly the Mann-Whitney U test. RESULTS: In the two families, there were six and nine probands, respectively, with hypermetropia more than +7 D and short eyes as defined by axial eye lengths <21 mm. The median corrected visual acuity was 0.4 (range, 0.2 to 0.9). Gross fundus abnormalities were not observed. All 15 had a short posterior segment with a thick eye wall and a relatively thick lens. Furthermore, steep and rather small corneas were present. In one of the families, 70% of the affected had a corneal curvature radius of < or =7.0 mm. Five probands from family 2 were labeled as possibly affected because of hypermetropia and borderline axial length findings (21 to 22 mm). The remaining 20 subjects had visual acuity and oculometric findings within physiologic limits. CONCLUSIONS: The axial measurement features in our series of highly hypermetropic eyes mainly presented as an extension downward from the hypermetropic bottom line of the normal distribution. The axial shortness of the eyes was primarily the result of a short posterior eye segment ("posterior microphthalmos"). A steep cornea was a feature in most small eyes in our series, particularly in one family branch.

Adolescent↗

PubMed2005

White-to-white corneal diameter: normal values in healthy humans obtained with the Orbscan II topography system.

PURPOSE: The corneal horizontal diameter (white-to-white) is abnormal in diseases like microcornea, relative anterior microphthalmos, and corneal dystrophies. Because normal values are described imprecisely in the literature, the purpose of this study was to reevaluate the horizontal corneal diameter as a scientific parameter. METHODS: The horizontal corneal diameter was measured with the Orbscan II system in 370 right eyes and 373 left eyes of 390 healthy white subjects aged 10-80 years. There were 148 female subjects and 242 male subjects. Each measurement was repeated twice. Differences in gender, between right and left eyes, and age-related alterations were analyzed statistically. RESULTS: The average corneal diameter was 11.71 +/- 0.42 mm. The average corneal diameter was 11.77 +/- 0.37 mm in males compared with 11.64 +/- 0.47 mm in females. The resulting normal ranges were 11.04 to 12.50 for males and 10.70 to 12.58 mm for females. Differences in gender were not significant in the t test for independent samples (P = 0.071). There were no statistically significant differences between right and left eyes in the t test for dependent samples (P = 0.16). Corneal diameters decreased slightly with age. CONCLUSIONS: With the obtained normal values, more precise determination of microcornea and macrocornea will be possible in the future. The horizontal corneal diameter was not significantly greater in males than in females. Further studies are needed to show the reasons for the age-related decrease in measurements.

Adolescent↗

PubMed2005

Mucous membrane graft versus Gunderson conjunctival flap for fitting a scleral shell over a sensitive cornea.

PURPOSE: To assess the efficacy of full-thickness mucous membrane grafts in forming a total and permanent corneal cover. METHODS: The records of all patients with a phthisical globe or microphthalmos who underwent a corneal covering procedure to allow comfortable wearing of a cosmetic scleral shell between March 1999 and July 2004 were reviewed. RESULTS: Ten eyes underwent a Gunderson conjunctival flap (group A), and 9 eyes underwent a full-thickness mucous membrane graft (group B). In group A, 3 eyes had total flap retraction and one eye had partial flap retraction. In group B, only one eye had partial graft retraction. The flap retraction in group A occurred in those eyes with a corneal diameter of 9 mm or more. CONCLUSIONS: The results from this small series of patients indicate that a full-thickness mucous membrane graft might be a better alternative for corneal coverage than a Gunderson conjunctival flap, especially in eyes with conjunctival scarring or relatively large corneal diameter.

Adult↗

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↗

PubMed1977

Trisomy 9 syndrome.

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.

Abnormalities, Multiple↗

PubMed1980

The Wolf-Hirschhorn syndrome. II. Pathologic anatomy.

Most cases of Wolf-Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf-Hirschhorn syndrome revels that association of typical external features and abnormalities ofthe brain (shortening of the H2 area of Ammon's horn, dystonic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.

Abnormalities, Multiple↗

PubMed1989

Management and visual acuity results of monocular congenital cataracts and persistent hyperplastic primary vitreous.

Sixty-two patients, 48 with a diagnosis of persistent hyperplastic primary vitreous (PHPV) and 14 with monocular congenital cataract (MCC) are reported. Nineteen patients with a diagnosis of PHPV and all patients with MCC received surgery with attempted visual rehabilitation. Early age of surgery, prompt optical correction with contact lens and aggressive patching therapy are required for successful visual rehabilitation. Glaucoma, retinal or optic nerve pathology, surgery later than three months of age or combinations of these factors were associated with poor prognosis. Isolated microphthalmos was not correlated with poor prognosis. Binocular fixation pattern was used to monitor patching therapy. Optokinetic nystagmus, visual evoked potentials or forced preferential looking were not employed. Of the 33 patients who underwent surgery, 10 (30%) achieved good (greater than or equal to 20/50) visual acuity, 8 (24%) achieved fair (20/60 to 20/100) and 15 (46%) achieved poor vision. In selected patients with the diagnosis of PHPV or MCC, visual rehabilitation can be achieved.

Age Factors↗

PubMedDate not supplied

Diagnostic ultrasonography of equine lens and posterior segment abnormalities.

PURPOSE: To define the indications for equine ocular ultrasonography and to provide representative ultrasonographic images of lens and posterior segment diseases. METHODS: Retrospective study. Equine medical records dating from January 1983 to March 2001 were reviewed. All cases that: (1) had a lens and/or posterior segment abnormality; and (2) received a complete ophthalmic examination and ocular ultrasonography were included. RESULTS: Forty-three cases (n = 64 eyes) out of 112 total cases of equine lens and/or posterior segment abnormalities qualified. The following conditions were identified ultrasonographically in order of decreasing frequency: cataracts, vitreal opacities, retinal detachment, lens luxation, endophthalmitis, microphthalmos, choroiditis, lens rupture, lenticonus, buphthalmos and phthisis bulbi. Ultrasonography often enabled diagnoses to be made in the presence of anterior opacities in both surgical (pre and/or postoperatively) and nonsurgical cases. Additional ocular conditions were identified in adults with cataracts more frequently than in foals with cataracts. CONCLUSIONS: Cataracts were the most common lens abnormality identified in horses that received ocular ultrasound examination. Cataracts were commonly found in association with other ocular abnormalities. Ultrasonography was a practical and effective method of evaluating the lens and posterior segment, particularly in cases with anterior opacities. Ultrasonography also provided critical information with regard to the potential for surgical removal of cataracts and was a valuable component of postsurgical follow-up.

Animals↗

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↗

PubMed1993

Thalidomide embryopathy: revisited 27 years later.

A prospective ophthalmological study was done in 86 out of a total of 100 Swedes with established thalidomide embryopathy. Forty-six (54%) of all examined individuals had eye findings, which made the eye the second most commonly affected organ in thalidomide embryopathy only surpassed by upper limbs (81%). Forty-three patients (50%) had ocular motility defects, mostly incomitant strabismus. Facial palsy and abnormal lacrimation each occurred in 17 (20%) individuals. One patient had coloboma of the uvea and optic disc and another two had coloboma of the optic disc. Infrequent anomalies were microphthalmos, congenital glaucoma, lipodermoid, and large refractive errors. The observed ocular motility defects, facial palsy and abnormal lacrimation occurred with early induced defects in thalidomide embryopathy, but not with isolated late occurring anomalies. This suggests that thalidomide exerts its effects on the development of these structures early in the teratogenic period, probably mainly during the fourth week of development.

Abnormalities, Drug-Induced↗

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↗

PubMed1976

Causes of blindness among students in blind school institutions in a developing country.

Out of 270 students in 17 blind school institutions in Malawi 73 per cent were blind before the age of three. The most common cause for the blindness was ocular infection (75-2 per cent). Meales, as a single cause, was responsible for 43-7 per cent of the cases and smallpox for 5-2 per cent. Bacterial infections were incriminated in 26-3 per cent of the cases. Most of these had received traditional medicine during the acute phase of the disease. Hereditary factors as causes of blindness were found in 7-8 per cent of the cases. These included congenital cataracts (2-6 per cent), optic atorphy of unknown origin (3-0 per cent), microphthalmos (1-5 per cent), and macular degeneration (0-7 per cent). Careful ophthalmological examination showed that in 37 cases an intervention could be attempted in order to improve the vision. In the 11 most favourable cases this was attempted, with the result that nine cases gained a useful vision of 4/60 to 6/18 in the better eye.

Adolescent↗

PubMed1990

The eye in the CHARGE association.

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.

Abnormalities, Multiple↗

PubMed1996

Intermittent horizontal saccade failure ('ocular motor apraxia') in children.

BACKGROUND: Ocular motor apraxia (OMA) in childhood is a poorly understood condition involving a failure of horizontal saccades. OMA is thought to be rare but the literature indicates wide clinical associations. OMA is often identified by abnormal head movements, but failure of reflexive quick phases has been reported in all but a few patients. The extent of this oculomotor disorder was examined in a large group of children with diverse clinical backgrounds. METHODS: The degree of quick phase failure during horizontal vestibular and optokinetic nystagmus was measured using DC electro-oculography and video in 74 affected children, aged 17 days to 14 years. RESULTS: All children showed an intermittent failure of nystagmic quick phases, except for total failure in one case. Other visuomotor abnormalities were common including saccadic hypometria (85%), low gain smooth pursuit (70%), neurological nystagmus (28%), strabismus (22%), and vertical abnormalities (11%). Non-ocular abnormalities were common including infantile hypotonia (61%), motor delay (77%), and speech delay (87%). There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos. Perinatal and postnatal problems were found in 15% including perinatal hypoxia, meningitis, periventricular leucomalacia, athetoid cerebral palsy, perinatal septicaemia and anaemia, herpes encephalitis, and epilepsy. Only 27% were idiopathic. CONCLUSION: Quick phase failure is a constant feature of OMA, whereas abnormal head movements were detected in only about half, depending on the underlying diagnosis. This oculomotor sign is better described as an intermittent saccade failure rather than as a true apraxia. It indicates central nervous system involvement, has wide clinical associations, but it is not a diagnosis.

Adolescent↗

PubMed1999

Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces.

AIMS: To determine the anatomical site and underlying causes of blindness and severe visual impairment in children under 16 years of age in special education in the People's Republic of China with a view to determining potentially preventable and treatable causes. METHODS: A national study of children attending schools for the blind in China was conducted between April and June 1998 using the WHO Prevention of Blindness Programme (WHO/PBL) eye examination record for children with blindness and low vision. Eight Chinese ophthalmologists attended a training workshop before conducting the study. 36 blind schools in 18 provinces of China were included. RESULTS: 1245 children aged between 5 and 15 years were examined, of whom 1131 (91%) were blind or severely visually impaired (visual acuity less than 6/60 in the better eye). The commonest anatomical sites of visual loss were whole globe (mainly microphthalmos) 25.5% and retina (mainly dystrophies) 24.9%. Lens was the major site in 18. 8%, optic nerve in 13.6%, and glaucoma in 9%. Corneal scarring was not a major cause of visual loss. The aetiology was unknown in 52.9%, hereditary factors were responsible in 30.7%, and childhood causes in 14%. 15% of cases were considered potentially preventable and 22. 5% potentially treatable. CONCLUSION: The pattern of childhood blindness seen in this study is likely to reflect the improved health and socioeconomic status of China but may partly reflect bias in admission to, and location of, blind schools, with higher socioeconomic groups overrepresented. Nutritional and infective causes of blindness are uncommon, and hereditary and unknown factors are now the predominant causes.

Adolescent↗