Acta ophthalmologica. Supplement最新文献

The aim of this work was to identify the choroideremia families in northern Finland, form an impression of the incidence of the disease in Finland, construct a picture of its clinical progression and gather new information on relevant genetic questions. A total of 111 choroideremia patients and 188 carriers were traced, members of four families from northern Finland and one from the Savo district. Ophthalmological confirmation was obtained for 84 choroideremia cases and 126 carriers. The largest of the families from northern Finland contained 80 cases of the disease and 146 carriers in eight generations among a total of more than 3000 descendants from one ancestral mother. The clinical picture for choroideremia proved to be more variable than could have been supposed from the literature, including cases of patients under 30 years of age who were already virtually blind and of patients of over 50 who were subjectively symptom-free. Only 7 out of 105 carriers could be shown anamnestically to have had subjective symptoms, but surprisingly, as many as 21 out of 52 carriers examined had changes in the visual field and 13 out of 40 examined showed deterioration in dark adaptation. One carrier was seen to undergo an obvious decline in dark adaptation during a three-year observation period. One indirect indication of the progression of fundus changes in choroideremia carriers was obtained from the fact that these changes, and also alterations in visual field and dark adaptation, were greater in the older carriers. A progression could also be detected by fundus photography in six instances, although the changes involved were fairly mild ones. Considerable variety was noted in the fundus findings for the choroideremia carriers, there being some 80-year-old subjects with quite minor changes and some 20-year-olds with obvious, extensive changes. Practical visual acuity remained normal throughout life in the majority of the carriers, however. Diagnosis within the known choroideremia families was fairly difficult, especially at the early stages in the survey, and even later on a few cases aged up to ten years produced diagnostic problems. Quite often diagnosis was easy, however, and choroideremic fundus changes were even identified in two boys aged 3 and 8 months. No other diseases could be shown to be associated with choroideremia, and the occurrence of dominantly inherited olivopontocerebellar atrophy alongside choroideremia in one branch of a family may be regarded as a coincidence.(ABSTRACT TRUNCATED AT 400 WORDS)

We examined and evaluated the ophthalmological findings of 47 patients with Best's Vitelliform Macular Dystrophy (BVMD) and 5 cases suffering from related conditions to this macular disorder. Our sample re-confirm that BVMD is a progressive disease which may have several appearances in the course of its evolution. The heredity of this disorder is autosomal dominant with reduced penetrance and variable expressivity. Some contradictions exist regarding the nature of the primary defect in this entity. Electrooculographic and angiographic investigations lend support to the belief that the basic pathological changes are located in the retinal pigment epithelium. However, recent histopathological findings and flicker electroretinographic results indicate the possibility that the photoreceptor cells are equally involved, even before the pigment epithelium. In view of the existing disagreements about the pathogenesis of this disorder, certain considerations were advanced which suggest that the basic pathologic process in this entity produces a disorganisation in the structural and functional interdependance of both the photoreceptor cells and pigment epithelium.

Clinical and epidemiological features of keratoconus (KC) were studied in a series comprising all the 212 KC patients treated at Oulu University Central Hospital from 1964 to 1984. Altogether 294 keratoconus patients and relatives were examined ophthalmologically by the author. The prevalence rate of KC needing ophthalmic care was estimated to be 0.03% (75/260,000). The annual incidence was 0.0015% (75/260,000 per 20 years) and remained the same throughout the period studied. 62.7% (133) of the patients were male and 37.3% (79) female. 73% were aged 24 years or younger at the onset of symptoms, the mean age of the males at the first examination being 26.5 +/- 8.2 years, and that of the females 30.6 +/- 13.7 years. Corneal transplantation was carried out on 65 of the 144 patients coming from the area served by Oulu University Central Hospital. Familial KC was found in 19 of the 101 families investigated in the north of Finland (19%) and in 5 of the 58 from the south (9%). The higher frequency of familial KC in the north is probably due to the more pronounced effect of gene pooling in the larger families (mean family size 4.9 persons as compared with 3.5 in the south). The inheritance was found to be attributable to a dominant autosomal mode in 24 out of 28 multiple-case families (85%), the disease being inherited from the mother in 15 cases and the father in 9. Data on the order of birth of keratoconic children were obtained from 159 families. 169 out of a total of 688 children were affected (25%). If families with only one child were excluded, then 47 of the 149 first children (32%) and 44 of the 149 second children (30%) had KC. Thus the disease is characterized by incomplete penetrance and variable expressivity. 122 HLA-A,B,C antigen typings were performed in 18 multiple-case families and the HLA genotypes expressed as haplotypes. In 15 families with more than one child affected, 27 keratoconic children were noted to share the mutual haplotype with the affected parent, whereas 3 had inherited the mutual haplotype from the healthy parent (p less than 0.001). The HLA haplotype could thus serve as a marker for KC inside the family. Connective tissue symptoms and abnormalities were seen in 31 out of 46 KC patients (67%) and in 60 out of 122 first-degree relatives from the town of Oulu and its surroundings (49%).(ABSTRACT TRUNCATED AT 400 WORDS)

Part one defines the topics and study purposes. The 12 studies reviewed in this survey focuses on following 3 topics of which the current knowledge is very limited: Assessment of outcome of cataract surgery (effectiveness studies). Pre-operative prediction of outcome of cataract surgery. Epidemiologic aspects of cataract surgery. These three topics were chosen as study objectives because more accurate knowledge of these points is necessary to assure a better cataract treatment in future, and as a basis for securing sufficient resource allocation to cataract surgery in the public health care. Each topic will be treated separately in the following 3 parts. Part two concerns the effectiveness studies on cataract surgery (publ. I-VI). Primary, a visual functioning index is presented and evaluated. The index is meant as a new supplementary tool for evaluation of the rehabilitation effect. This index, together with visual acuity and other outcome evaluators, was then used for assessment of the effectiveness of cataract extraction generally and in different sub-groups, supplemented with quantitative assessment of rehabilitation problems and analysis of outcome predictors. In a consecutive series of patients, in which intraocular lenses were not used, it was found, that 82% of the patients obtained a final visual acuity of 0.5 or better and 74% of the patients had normal or near normal basic visual functioning at one year follow-up. In spite of these good results, the rehabilitation of these aphakics were difficult. The difference between the two figures above represents some of the 'aphakic vision cripples' with severe difficulties of adaptation to aphakic spectacles. 26% of cataract extracted patients in a normal consecutive group were found to be dissatisfied with the outcome. Two main reasons for dissatisfaction were found: macular disease and low quality of vision with aphakic spectacles, especially in monaphakics, of which 75% had complaints about vision. Although monaphakics nearly reach the same level in basic functioning as the biaphakics, the latter are much more satisfied. It seems likely that basic visual functioning is gained by first eye surgery and more delicate visual functioning and a subjective 'visual comfort' is obtained by second eye surgery. Adaptation to aphakic spectacles seem to be far less difficult for the biaphakics. In series of patients rehabilitated with intraocular lenses or extended-wear contact lenses, the monaphakics appear to have a generally better visual functioning and they are much more satisfied with outcome than spectacles corrected monaphakics.(ABSTRACT TRUNCATED AT 400 WORDS)

Thirty children suffering from the fetal alcohol syndrome (FAS) were compared with 22 matched controls regarding malformations of the eyes and the visual function. All mothers to the FAS children had a documented abuse of alcohol during pregnancy. It was not possible to get reliable, detailed data on drinking habits, nor could it be ruled out that some mothers might have used psychopharmaceutic drugs during periods of the pregnancy. Defects of the outer eye region, or intraocular abnormalities, or both, were found in 27 FAS children (90%). Anomalies of the outer region like ptosis and strabismus were frequently found in the FAS children but were not common in the controls. Abnormalities in the anterior segments and media were found in six eyes. Malformations of the fundus were the most frequently occurring abnormalities in the FAS children. Forty-eight per cent of the eyes showed hypoplasia of the optic nervehead and 49% had an abnormal tortuosity of the retinal arteries. These variables were studied quantitatively by a new photogrammetric method. There were serious consequences to the vision of the FAS children. Nineteen per cent of the eyes has a visual acuity of 0.2 (20/100) or less, and 46% had 0.3-0.6 (20/60-20/30). Almost all controls had normal vision. As maternal alcohol abuse during pregnancy was the only variable which could be traced in every case of FAS, it is appears very likely that alcohol caused the abnormalities of the eyes, possibly through non-specific, intra-uterine growth retardation. It that were the case, ocular abnormalities should be common in children with non-FAS growth retardation. A control study did not support this possibility.