[Pathological findings in the eye of children with facial nevus]. / Patologiske funn i øyet hos barn med fødselsmerke i ansiktet.

BACKGROUND: Port-wine stains distributed to the trigeminal area may be associated with eye and/or central nervous system complications. Visual loss may be prevented with screening for eye pathology at an early age with adequate intervention. MATERIAL AND METHODS: 45 children with port-wine stains in the trigeminal area were examined by an ophthalmologist under general anaesthesia. RESULTS: Seven of 30 patients with one or both eyelids affected had a choroidal vascular anomaly. Four patients had glaucoma. These four patients had both eyelids affected. Two children with a vascular anomaly had only upper eyelid involvement. INTERPRETATION: Patients with facial port-wine stains affecting the eyelids should be screened for eye pathology at an early age.

Ocular findings in allogeneic stem cell transplantation without total body irradiation.

OBJECTIVE: To evaluate the ophthalmologic complications in hematologic patients after allogeneic stem cell transplantation (ASCT) without total body irradiation. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: A total of 150 ASCT patients. INTERVENTION: Ophthalmologic examinations of 130/150 patients were made, with particular attention to the occurrence of graft-versus-host disease (GVHD). RESULTS: One hundred thirty patients with a mean age of 35.5 (SD 10.6) years at the time of ASCT were followed up for a mean of 12 months (range 3-60 months). GVHD developed in 73 patients (56.2%). Of 130 patients, 52 (40.0%) had ocular complications, and 29 (22.3%) of those had GVHD. Keratoconjunctivitis sicca was diagnosed in 13 (10.0%) patients, and 12 (9.2%) had different stages of pseudomembranous conjunctivitis. Cataract developed in 3 patients (2.3%) in the observation period, and 7 (5.4%) had keratitis. Six (4.6%) patients had uveitis, and 8 (6.2%) had retinal hemorrhages. No ischemic retinopathy was found. Bilateral optic disc edema developed in 10 (7.7%) patients. CONCLUSIONS: Fewer ocular complications were observed in this series than in earlier studies, and the visual outcome was favorable. Cyclosporine has been linked to the development of optic disc edema and ischemic retinal lesions. The latter condition was not observed in the study patients, and the optic disc edema resolved within 1 year in all patients without any detectable visual impairment, in spite of continuation of the drug. Seven patients had acute GVHD at the time of optic disc edema, which is considered to be another manifestation of acute GVHD.

[Leukocoria (white pupil) among children--mother is always right]. / Leukokori (hvit pupill) hos barn--mor har alltid rett.

Leucocoria is a rare, but serious symptom in early childhood. It may be present at birth or develop during infancy. As in adults, infants usually display a black pupil, and upon shining a bright light into the pupil with the ophthalmoscope, an orange or red reflex emerges. The first person to see that something is wrong, is often the mother, but she cannot give a precise description. When the infant is crying it can be difficult to examine the red reflex, and the necessity of admitting the infant to an ophthalmologist, when the mother is worried, is discussed. In this paper we discuss two cases of retinoblastoma and one case of congenital cataract where the treatment was delayed due to late diagnosis of the leucocoria. The main conclusion is always to listen to the relatives when they are worried about the infant's eye, and to make sure that the infant is properly examined.

[Retinopathy of prematurity. Experiences with a routine examination]. / Retinopati ved prematuritet. Erfaringer med et undersøkelsesopplegg.

Retinopathy of prematurity continues to be an important cause of serious visual impairment and blindness in children. We have previously suggested a schedule for ophthalmoscopic examinations to identify the serious cases where there may be indication for cryotherapy. We present our experience from this schedule, which covered premature infants with gestational age below 31 weeks and/or birth weight below 1,500 g. 103 infants in two neonatal intensive care units were monitored according to our schedule. Mean gestational age was 27.4 weeks (23 to 33 weeks). Mean birth weight was 995 g (530 to 1,650 g). Retinopathy was found in 27 infants. Six developed stage 3 "plus" disease and five of these had an indication for cryotherapy. No infant with gestational age over 26 weeks or birth weight over 1,000 g had stage 3 "plus" disease. The incidence of retinopathy in our series was low by international standards. We recommend that routine screening for retinopathy should continue in the above gestational age and birth weight groups. Ophthalmological examinations must begin at 5 to 6 weeks postnatal age.

Incidence of registered visual impairment in the Nordic child population.

A collaborative, population based, prospective register study on the incidence of visual impairment in children during the year 1993 was carried out in five Nordic countries with a total population of 17 million inhabitants. The child population was 3.8 million individuals aged 0-17 years. The following variables were taken into account: nationality, age, sex, diagnoses, aetiology, degree of visual impairment, and additional impairments. Classification routines from an earlier prevalence study were used. The present study included 304 children corresponding to an incidence of notification of 8/100,000 children, varying from 5.7 to 11.1 in the five countries. Fifty per cent of the visually impaired children were reported before they were 3 years of age. In approximately 45% of the children, visual impairment was due to various brain disorders, with cerebral amblyopia and secondary optic atrophy as the two leading causes. The relative impact of retinopathy of prematurity had decreased from the third most frequent cause (10%) in the prevalence study to seventh place (4%) in the incidence study. Two thirds of the children had additional impairments and these children also suffered from the most severe visual impairments. Among aetiological factors the majority (64%) were prenatal. The overall male:female ratio of 1.4:1 was identical to the sex ratio of the prevalence study.

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption.

[Retinopathy of prematurity. Cryotherapy can reduce the risk of severe visual impairment]. / Retinopati ved prematuritet. Kryoterapi kan minske risiko for alvorlig synstap.

Retinopathy of prematurity is a main cause of severe visual impairment and blindness in infancy. It is reported that the incidence is increasing along with the growing survival of infants with an extremely short gestation period. Transscleral cryotherapy has been shown to be effective in arresting the progression of the disease into the sight-threatening fibrovascular stages. A structured screening programme starting four to six weeks after birth for infants with less than 31 weeks of gestation is needed to identify the relatively few prematurely born infants for whom this treatment is indicated.

Visual impairment in Nordic children. V. X-linked juvenile retinoschisis.

In a study on 2,527 visually impaired children from four Nordic countries X-linked juvenile retinoschisis was diagnosed in 35 male children. Striking differences in frequency between the four countries were found, with 26 cases reported from Finland, 5 cases from Denmark, and 4 cases from Norway. None was reported from Iceland. The corresponding age and sex-specific prevalence rates of X-linked juvenile retinoschisis (N:1,000,000) were 44.5 in Finland, 8.8 in Denmark, and 7.9 in Norway. The uneven geographical distribution is possibly attributed to a 'founder effect' due to the settlements in Finland by European immigrants in the 17th century. The visual impairment of the registered cases was usually mild with 91.4% falling into WHO category 1. However, one child was totally blind, demonstrating large phenotypic heterogeneity. None of our cases had additional impairments. The majority were more than five years old, indicating a progressive course during childhood. Nevertheless, two children were diagnosed at the age of one. The most common age at registration was seven years, coinciding with the beginning of school attendance.

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.

Two siblings who presented shortly after birth with signs of upper intestinal obstruction were successfully operated for apple peel jejunal atresia. In addition to intestinal malformations, both siblings exhibited severe microcephaly and ocular abnormalities not previously reported in this condition.

Cryotherapy for retinopathy of prematurity. International perspectives and some recommendations for treatment.

Retinopathy of prematurity (ROP) is a leading cause of severe visual impairment and blindness in infancy. Transscleral cryotherapy has been shown to be effective in arresting the progression of ROP into the sight-threatening fibrovascular stages of the disease. It is currently recommended that all eyes reaching 'threshold' ROP should be treated. If both eyes of an infant reach 'threshold', both eyes should be treated. For centers that handle a limited number of infants with ROP it is suggested that the cryotherapy should be done under general anesthesia.

Visual impairment due to retinopathy of prematurity in Nordic children.

The registers of visually impaired children in Denmark, Finland, Iceland and Norway have been compiled into a common database by a Nordic study group of ophthalmologists, NORDSYN. The database contains information on 2527 children aged 0-17 years. The total number of children with visual impairment due to retinopathy of prematurity (ROP) is 247. ROP is the 3rd most common single diagnosis in the database. The age-specific national prevalence of registration (N/100 000) of visual impairment due to ROP varies from 12 in Denmark to 5 in Finland and Norway and 4 in Iceland. The differences can partly be explained by varying efficiency of registration. The age-distribution indicates that visual impairment due to ROP is not decreasing. Of the 247 children 175 had a visual acuity less than 1/60 and 58 had one or more additional impairments. Incidence studies on visual impairment in Nordic children are being prepared.

Visual impairment in Nordic children. III. Diagnoses.

The diagnoses, according to type and site and the degree of visual impairment, responsible for severe visual impairment in children below the age of 18, were analyzed in a material compiled from the national registers of visually impaired in Denmark, Finland, Iceland and Norway. Among 2527 children the predominant causes of visual impairment are ascribed to congenital malformations, neuro-ophthalmological diseases and retinal diseases. Optic atrophy is the leading single cause of severe visual impairment when all diagnoses are compared, and this also applies when all categories of visual impairment are included. Retinopathy of prematurity is the second principal cause of severe visual impairment, while cerebral amblyopia rates as the third most significant cause. Congenital cataract is also of considerable importance when all categories of visual impairment are compared. The differences registered between the Nordic countries were found to be within reasonable limits, except for a preponderance of neuro-ophthalmological diseases in the Danish material. This could be explained by a better medical supervision of mentally retarded patients in Denmark. Additional impairments occur in a large percentage of patients, but are unevenly distributed in the disease groups. A high frequency of additional impairments are found in the neuro-ophthalmological group and in the groups with congenital malformations, emphasizing the importance of a multidisciplinary evaluation when dealing with the visually impaired child.

Visual impairment in Nordic children. IV. Sex distribution.

A Nordic study group of ophthalmologists, NORDSYN, has compiled registers in Denmark, Finland, Iceland and Norway of 2527 visually impaired children aged 0-17 years. This paper is concerned with the sex-distribution in the registers and has documented a statistically significant excess of males in two of the registers (Denmark and Finland). The dominance of males seems to be related to two main conditions: 1. Genetic factors. 2. Perinatal factors. The genetic factors are mainly concerned with X-linked inheritance. The fact that perinatal influences involve visual impairment in males more than in females is difficult to account for. It may be conjectured, that the basis for perinatal visual damage is determined by unknown prenatal, possibly genetic, factors.

Visual impairment in Nordic children. I. Nordic registers and prevalence data.

A Nordic study group of ophthalmologists, NORDSYN, has compiled data from registers in Denmark, Finland, Iceland and Norway of 2527 visually impaired children. Each record contains the following information: sex, year of birth, year of registration, classification of visual impairment, ocular diagnosis, systemic diagnosis, aetiology and evt. additional impairments. The ocular diagnoses were compiled into groups, and coding systems for aetiology and additional impairment were developed. The sex distribution revealed a dominance of males compared to the general population at the same age. Cases with non-genetic aetiology showed--through to a lesser extent--the same relative preponderance of males. The diseases in males caused by x-linked genetic factors do, therefore, not fully explain the sex distribution observed in the study. The national prevalences for registration of childhood blindness (WHO-definition: best corrected visual acuity in the best eye less than 3/60 or visual field less than 10 degrees around fixation for the ages 0-15 years) are per 100,000 child-population aged 0-15 years: Denmark 41, Finland 15, Iceland 19 and Norway 15. The differences are primarily presumed to be due to varying efficiency in registration. The proportion of visually impaired children with an additional mobility, hearing or mental impairment is between one-third and one-half of the national materials, thus indicating the need for interdisciplinary tracing of and care for the visually impaired child. This study documents the need of uniform routines for data classification of visually impaired children. The quality of the data in the present study calls for caution in the interpretation of the prevalence estimates. Incidence studies are being prepared to obtain information on whether the amount and causes of visual impairment in children with or without multiple impairments are changing.

Visual impairment in Nordic children. II. Aetiological factors.

Careful clinical-aetiological assessment of visually impaired children is one of the prerequisites for prevention of future, 'unavoidable' cases of visual impairment of children in the industrialized part of the world. In a collaborative study (NORDSYN) between four Nordic national registers of visual impairment, we analysed and classified some of the factors considered to be essential components for the development of low vision or blindness in children. We discuss the conceptual basis for aetiological classification of eye disorders and visual impairment. An aetiological classification system, based on the type and debut of an essential causal factor is introduced. We present data on 2527 visually impaired children from the Nordic countries. In accordance with several other reports from the last twenty years it is demonstrated that prenatal factors, including genetic aetiologies, were involved in a large proportion (66%) of the cases. In children without additional impairments the corresponding fraction was 74%. Genetic factors accounted for a little over half of the prenatal cases, and in a substantial number of children (40%) with visual impairments of prenatal origin, the causes were obscure. In 1/5 of the material some peri-neonatal causal or modifying factor was identified. In 7% only, the presumed aetiological factor was introduced in the infantile-juvenile period of life. Further prevention of visual impairment among children of the industrialized countries would benefit most from a more comprehensive understanding of prenatal, nongenetic causal factors, further knowledge about regulating mechanisms responsible for gene expression, and additional improvements in perinatal care.

Sightsaving therapy in retinoblastoma. Experience with external megavoltage radiotherapy.

In Norway, sightsaving therapy in retinoblastoma has only been given to least affected eyes in bilaterally affected children. The results in 8 eyes given external high energy radiotherapy are reported. Additional focal therapy was given to 3 eyes for residual tumours and to one eye with new tumour at the ora serrata. Cataract was treated in 2 of the 3 eyes in which it developed. Vitrectomy was performed in 2 eyes with vitreous haemorrhage and persisting vitreous haze. Secondary enucleation has been avoided in all eyes 3-9 years after irradiation. One patient developed metastases in the temporal region at the enucleated side. Visual acuity is 6/12-6/6 if the macula has not been destroyed by tumour or focal therapy. Sightsaving therapy is presently also offered to unilateral cases and worst affected eyes in bilateral cases if the eyes belong to Reese-Ellsworth groups I-IV.

Changes in the juxtapapillary retinal pigment epithelium following intravenous injection of sodium iodate. A light and electron microscopic study using horseradish peroxidase as a tracer.

The effect of an intravenous injection of sodium iodate on the retinal pigment epithelium immediately surrounding the optic nerve head has been investigated using horseradish peroxidase as a morphological tracer. A sodium iodate injection leads to a necrotic reaction of practically the complete retinal pigment epithelium. The juxtapapillary pigment epithelium, however, showed only attenuation and depigmentation without any necrotic reaction 4 and 12 days after the injection. Twenty-six days following the injection the epithelium had almost normalized. The result of this study thus demonstrates a noteworthy resistance of the juxtapapillary retinal pigment epithelium against the sodium iodate effect. At no stage was there a clear indication of a breakdown of the permeability barrier constituted by the juxtapapillary retinal pigment epithelium. Horseradish peroxidase moved into the peripapillary sensory retina by lateral diffusion from the surrounding retina and diffused into the optic nerve head proper, confirming the presence of a diffusional pathway through the Kuhnt intermediary tissue.