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Biomedical subjects

H Erkkilä

Publications and source records attributed to H Erkkilä.

At least 19 recordsLinked to original sources

Strabismus in children with cerebral palsy.

In 48 children with cerebral palsy the characteristics of the squint and amblyopia were analyzed, also with respect to the features of cerebral palsy and to birth weight. Strabismus of congenital esotropia type was found to be common, as was also exotropia of early onset. Spontaneous alternation or an accommodative component of the squint was present only in a few cases. There was no evidence of an accumulation of any strabismus type in the different subgroups of cerebral palsy, whereas amblyopia or an obvious risk for amblyopia was found in the great majority of the cases. Some kind of amblyopia treatment was given to 34. Most of them showed improvement of the visual capacity which encourages treatment of amblyopia, even in children with cerebral palsy.

Adolescent

Rod-cone dystrophy of the retina. Continuation of a family study described in 1923.

In 1923 Alkio described a sibship with 4 children showing macular dystrophy. In the literature this has been classed among the cone dystrophy group. However, Alkio's patients later became completely blind by the age of 50. According to the hospital records one of them showed marked destruction and pigment degeneration throughout the fundus. The daughter of one of those affected has healthy eyes, but two of her three sons are affected in the same way as their grandfather. They were studied by us in 1987. These two males showed the bull's eye type of macular dystrophy with visual acuity of 20/30 resp 20/50, marked dyschromatopsia, central scotoma in the visual field for weak markers, extinguished ERGs and subnormal EOGs. Dark adaptation was considered pathological especially during the cone phase. The peripheral fundus was within normal limits. The parents of the two patients have a common ancestor born in 1720. Autosomal recessive inheritance is therefore very likely. We think that the disorder is closer to the rod-cone dystrophy group than to cone or cone-rod degenerations.

Adolescent

Optic neuritis in children and its relationship to multiple sclerosis: a clinical study of 21 children.

The optic neuritis of 21 children aged between four and 14 years generally was characterized by bilateral involvement (62 per cent) and papillitis (76 per cent). Often acute infections or vaccinations were preceding events. Frequently there was pleocytosis during the disease process, with production of IgG, oligoclonal and viral antibodies, which increased during follow-up. Nine of these children (eight female) later developed multiple sclerosis, with unilateral involvement of the optic nerves and HLA Dr2 positivity. Disseminated effects on the central nervous system were similar to those of adults with multiple sclerosis. In all cases these relapses occurred within one year of the optic neuritis. EEGs did not differentiate those who developed multiple sclerosis from those who did not, but four of five patients with multiple sclerosis who were followed-up for a year or more had paroxysmal discharges, and one of the four had manifest epilepsy. Magnetic resonance imaging, visual and sensory evoked potentials and CSF studies were helpful in diagnosing multiple sclerosis. The visual prognosis was good in most cases. 17 children had no or only slight neurological disability at the end of follow-up; the other four had moderate to severe disability. This study suggests that optic neuritis is a diffuse disease, not merely affecting the optic nerves, and that the immunological events typical of multiple sclerosis can start in childhood.

Adolescent

Children referred for pleoptic treatment. A survey on aspects considering referral for examination, role of screening programmes, previous therapy and compliance.

The patient histories of 53 unselected children referred for pleoptic treatment were evaluated. The age of the patients ranged from 7 to 12 years, and the mean age was 8.8 years. Information concerning the history was obtained from a questionnaire answered by the parents. The data concerning the ocular conditions were available in the case records. In 83% of the children the diagnosis of functional amblyopia had already been made before school age. During the first 3 years of life altogether 38% were diagnosed outside of routine screening programmes. When the children caught by screening were added, the proportion of those diagnosed before the age of four was 45%. The practice of referring patients from the child health center to the ophthalmological examination was unsatisfactory in some children (19%). Poor compliance was noted still more often (at least in 58%). Occlusion therapy had been used by 92% of the children, and in 42% alternating complete occlusion had been prescribed.

Amblyopia

Optic neuritis during lactation.

The condition called "lactation optic neuritis" has been previously considered a clinical entity of its own. Four women, who developed optic neuritis within 1-12 months while breast-feeding their infants, were investigated ophthalmologically and neurologically in order, to find specific clinical features for this condition. The course of the disorder was similar to classic optic neuritis without lactation. The clinical history and laboratory findings in three of the four patients suggested a demyelinating disorder. It is possible that the decreased immunosuppressive activity just after pregnancy induces the manifestation of an underlying demyelinating disease. The existence of "lactation optic neuritis," however, is questioned as a separate entity of its own. Lactation together with decreased immunosuppression may merely act as a provocateur in the onset of optic neuritis, which in many cases is the first clinical manifestation of incipient multiple sclerosis.

Adult

Ocular findings in four siblings with pseudoxanthoma elasticum.

In a family consisting of 8 surviving siblings, pseudoxanthoma elasticum was diagnosed in 4 sisters. One of them had a severe visual handicap, and another a slight decrease of the visual acuity because of the ocular lesions. The other 2 sisters also had fundal lesions, but they were visually symptom-free. Great variation was also found in the appearance of the ocular lesions in the affected siblings. In addition to the angioid streaks, the fundal findings in the probands affected included changes of the retinal pigment epithelium, exudative maculopathy, optic disc drusen and 'fire-work'-pattern of drusen of the Bruch's membrane. A similar variety of alterations was also found in the histopathology of the skin.

Adult

Immunological studies on serpiginous choroiditis.

Immunological studies on 15 patients with serpiginous choroiditis gave no definite indications of the aetiology of the choroidal vascular lesion which appears to be the initial failure in this disorder. On the basis of the patients' history, recurrencies, and clinical and fluorescein angiographic features, it was suspected that the disorder was of inflammatory origin, probably vasculitis due to an abnormal immune response. To some extent this was supported by the laboratory findings. Of the histocompatibility antigens, HLA-B7 was found more frequently than expected in a Finnish population (54.5% versus 24.3%; P less than 0.05). Increased levels of antibacterial antibodies, ASO or ASTA, were found in eight patients and antiviral (herpes simplex) antibodies in two. One patient had earlier been treated due to positive syphilis serology, and one had an increased serum level of IgM as well as positive latex reaction in a dilution of 1:16. The serum concentration of complement component C3 was slightly decreased in three of the six patients studied and at the lower limit of the normal range in one. No manifestations suggesting systemic disease were found.

Adult

Subretinal and disc neovascularisation in serpiginous choroiditis.

Three out of 15 patients with serpiginous choroiditis who have been followed up for 1 to 10 years (mean 4.9 years) developed subretinal neovascularisation in the macula. In one eye new vessels were treated with argon laser without attaining permanent obliteration, in the second eye the neovascular membrane was regarded as untreatable because it was under the fovea, and in the third eye new vessels became obliterated spontaneously after atrophy of the surrounding choriocapillaris and the pigment epithelium of the retina. In a furth patient disc new vessels were seen at the active stage of serpiginous choroiditis; these new vessels disappeared after scarring of the initial chorioretinal lesions.

Adult

Dominant progressive cone-rod dystrophy.

The report describes a Finnish family in which retinal lesions associated with a considerable visual loss have been found in 19 probands in 5 consecutive generations. The progressive cone-rod dystrophy diagnosed in the probands shows an autosomal dominant mode of inheritance. The onset of the disease was noticed in most of the probands early during the first decade of life. In the young diseased probands the fundal lesions showed the pattern found in pure cone dystrophies. Elder probands, however, had lesions and dysfunctions indicating an obvious rod involvement in addition to the cone dystrophic pattern. The fundal lesions included very extensive pigmentation in most of the elder probands with the disease. In addition to the retinal lesions, considerable astigmatism and lens opacities at the level of the posterior capsule were found in a great proportion of the probands.

Adolescent

A follow-up study on serpiginous choroiditis.

Fifteen patients suffering from serpiginous choroiditis were followed up for 1 to 10 years (mean 4.9 years). There were 7 women and 8 men with ages ranging from 20 to 65 years (mean 35 years). In 13 patients both eyes were involved. Ten of the 15 patients had both inactive scars and fresh lesions when first seen. The individual lesions resolved in a few weeks but, due to the gradual extension of the primary lesions centripetally in the shape of halos or pseudopods, signs of activity were observed for 1 to 9 months after the initial examination. After an interval of 3 months to 4 years, new recurrences were found in 8 patients; in some of them progression was noticed on serial fundus photographs only. Central vision was lost in 6 eyes, in 2 of them due to a subretinal neovascular membrane. Progression and recurrences could not be prevented by antituberculous medication or systemic corticosteroids. The cause of serpiginous choroiditis remains unknown but, on the basis of the fluorescein angiography, occlusion of the uveal vessels, possibly due to an immune vasculitis, is suggested. Immunological studies revealed no signs of diffuse vasculitis. Of the histocompatibility antigens, HLA-A2 was found in five and HLA-B7 in 4 of the 6 patients studied.

Adult

Characteristics of optic disc in healthy school children.

The ophthalmoscopic features of the optic discs were studied in a series of 411 non-selected school children representing four age groups from 7 to 15 years. The distribution of the cup disc diameter ratios (C/D) showed that in the majority of the eyes (58.8%) the ratio was 0.2--0.3, independently of the age group. The highest ratio recorded, 0.7, was found in two eyes of the series. An asymmetry of 0.2 or more in the C/D ratios of the eyes was found in 5.2% of the children studied. The correlation between C/D ratio and the age or refraction was not statistically significant although C/D ratio of 0.4 or more was significantly commoner in myopia of -2.0 D. or more than in the other eyes. A preponderance of large C/D ratio was also found in children with a birth weight of 2500 g or less but the difference from the distribution in the total series was not significant. Cilioretinal arteries were detected in 17.7% of the eyes and in 27.3% of the subjects studied. In 8.1% of the children the condition was bilateral. In children with a birth weight of 2500 g or less cilioretinal arteries were found in more than half of the cases.

Adolescent

[Butterfly-shaped dystrophy of the macula with absent pre-beta-fraction of the electropherogram of the serum lipoproteins (author's transl)].

A case of butterfly-shaped dystrophy of the macula is described. Clinical and electrophysiological data are compared with those of 11 cases described in the literature. An aberrant electropherogram of the lipoproteins examined at two different laboratories was found to be present. The serum lipoproteins showed total lack of the pre-beta-fraction. Two children of the patient were examined, too. They showed minimal macular changes which however did not justify the diagnosis of butterfly-shaped dystrophy. Their pre-beta-lipoprotein fractions of the electropherogram were below the Finish standards. The proband is the first case of butterfly-shaped macular dystrophy described from Finland and therefore it was not possible to control the laboratory findings on other cases. The absence of the pre-beta-lipoprotein fraction might be an important feature of butterfly-shaped dystrophy of the macula.

Adolescent