In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P
This review provides a summary of the main objectives, significant design features, and major findings and achievements of the Collaborative Ocular Melanoma Study (COMS). It has been written by two ophthalmic oncologists who were not part of the COMS study group; therefore, it represents an extramural view of the trial to supplement summaries published by the COMS investigators. Because the randomized design of the COMS was unique, no attempt is made to make any comparison with the results of previous non-controlled studies.
To assess the role of digital imaging and a new subtraction method for differential diagnosis of choroidal nevus and small choroidal melanoma.
Of 241 consecutive patients referred to a tertiary referral center for suspected choroidal melanoma, 110 who underwent digital imaging of the ocular fundus were eligible for this study. Digital color, red-free and red light retinal images were evaluated in a randomized and masked manner and by the subtraction method for diagnosis of the fundus lesion. The reference standard was based on the combined results of ophthalmological examination, including mydriatic ophthalmoscopy, B scan ultrasonography, digital imaging and fluorescein angiography of the ocular fundus.
Comparative use of digital color, red-free and red light imaging had 85.7% (95%CI 42.1-99.6) sensitivity, 99.0% (95%CI 94.7-99.9) specificity and 98.2% (95%CI 93.6-99.8) exact agreement versus reference standard in differentiation of small choroidal melanoma from pseudomelanoma. Direct comparison between use of digital images and the reference standard showed excellent agreement in detecting small choroidal melanoma from suspected choroidal lesions (K 0.847; 95%CI 0.639-1.0). The subtraction method was useful to show growth in four of 94 melanocytic choroidal tumors. The mean annual incidence of choroidal melanoma in Southwest Finland was 0.80 per 100.000 population. The most frequent choroidal pseudomelanomas were choroidal melanotic and amelanotic nevi, disciform lesions, congenital hypertrophy of the retinal pigment epithelium, and circumscribed choroidal hemangioma.
Combined use of digital color, red-free and red light imaging was a suitable adjunct in differentiation of small choroidal melanoma from different pseudomelanomas. The subtraction method may reveal early growth of the melanotic choroidal tumors.
PURPOSE: To compare the frequency of exfoliation syndrome (EXS) in Denmark and Finland in eyes enucleated for absolute glaucoma and uveal melanoma and to correlate these results to reported clinical prevalence rates. METHODS: The material consisted of 304 and 39 eyes consecutively removed because of absolute glaucoma and of 240 and 149 eyes enucleated because of uveal melanoma in Denmark and Finland, respectively. Histological sections of all eyes were stained with haematoxylin-eosin and periodic acid-Schiff and examined under a light microscope for EXS. Diagnosis of EXS was made by the consensus of the investigators. RESULTS: In absolute glaucoma eyes, EXS was observed in 12 out of 304 eyes (3.9%, 95% CI 2.1-6.8) in Denmark, and in 16 out of 39 eyes (41%, 95% CI 26-58) in Finland (p
Neuromyelitis optica (NMO) is rare in Finland. To identify rare genetic variants contributing to NMO risk we performed whole exome, HLA and regulatory region sequencing in all ascertained cases during 2005-2013 (n=5) in a Southern Finnish population of 1.6 million. There were no rare variant shared by all patients. Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. Another PDZD2 variant was found in a third patient. In the non-coding sequence two predictably functional rare variants were shared by two patients. Our results do not support a homogeneous genetic etiology of NMO in Finland.
Abnormal fibrils can be identified by electron microscopy in the heart, lung, liver, kidney, cerebral meninges and other tissues of patients with exfoliation syndrome (ES). However, a clinical association of ES with arterial hypertension (HT), ischaemic heart disease (IHD), cerebrovascular accidents and aneurysm of the abdominal aorta is debated. We conducted a national registry-based survey to further assess the first two of these associations.
We reviewed the records of 519 consecutive patients to whom the Social Insurance Institution of Finland had granted free medication for glaucoma according to national common criteria. The glaucoma was classified either as primary open-angle glaucoma (POAG) or exfoliation glaucoma (EG), masked to any systemic diseases; 20 patients with other types of glaucoma were excluded from the survey. Masked to the type of glaucoma, the registry provided data on free medication similarly granted for HT, IHD and diabetes mellitus (DM), a known modifier of risk for cardiovascular disease. Data were analysed by logistic regression, modelling age, gender and DM as confounders.
The control group of 344 patients with POAG was comparable as regards gender with the study group of 155 patients with EG, but patients with POAG were both younger (mean 69 versus 73 years; P
PURPOSE: To assess change in incidence of retinoblastoma in Northern Europe and to compare commonly used methods for calculating its incidence against birth cohort analysis. DESIGN: Retrospective cohort study. PARTICIPANTS: Individual and pooled data of 291 Swedish and 174 Finnish children diagnosed with retinoblastoma between 1958 and 1998. MAIN OUTCOME MEASURES: Incidence per 1 million children younger than 5 years of age (37 812 035 person- years at risk) and per 100 000 live births (7 152 265 live-born children at risk). METHODS: Data were from Swedish and Finnish Cancer Registries and corresponding national referral centers for retinoblastoma. Incidence was calculated both by standard analysis per children younger than 5 years of age and per live births, and by birth cohort analysis. Curves were smoothed with robust, locally weighted regression. Linear regression was used to fit pooled data. RESULTS: The number of new retinoblastoma cases per year ranged from 0 to 13 (1-13 per birth cohort) in Sweden and from 0 to 10 in Finland (1-9 per birth cohort). The mean incidence was 11.8 (95% confidence interval [CI], 10.5-13.1) and 11.2 (95% CI, 9.4-13.0) per 1 million children younger than 5 years of age in Sweden and Finland, respectively, and 6.7 (95% CI, 5.9-7.5) and 6.2 (95% CI, 5.3-7.2) per 100 000 live births, respectively. Analysis based on year of diagnosis suggested moderate increase in incidence since 1990, but by birth cohort analysis, incidence rates were stable for both countries. The pooled incidence by birth cohort was 6.0 (95% CI, 5.4-6.6) per 100 000 live births, corresponding to 1 in 16 642 (95% CI, 15 105-18 528) live births. CONCLUSIONS: The data suggest that the incidence of retinoblastoma is stable in Northern Europe. Analysis based on birth cohort is recommended for future epidemiologic studies, because it minimizes the effect of variable age at diagnosis of this developmental cancer and results in less variable incidence rates than standard analysis based on year of diagnosis.
John G. Lindberg, a young Finnish ophthalmology resident, started a research project in 1914 aiming at an academic dissertation. His plan was to elucidate Axenfeld's observations on iris changes in senile eyes. Axenfeld had described two types of degeneration of the iris: a hyaline degeneration of the iris pupillary zone causing poor pupillary dilatation with mydriatics and an atrophy of the iris pigment epithelium at the pupillary border. For his research Lindberg had to construct a slit-lamp biomicroscope by studying Gullstrand's monograph on the matter; slit-lamp biomicroscopes were not commercially available at that time. A Sach's lamp was used for transillumination of the iris. While conducting his research Lindberg paid attention to greyish flakes and fringes at the pupillary border. He also noted how this strange material formed a membrane on the anterior lens surface. Documentation was made by skillful hand drawings. The new phenomenon was found to be as common in cataract patients as in non-cataractous controls older than 55 years. The phenomenon was observed in 50% of glaucoma patients. Age was the decisive factor; the phenomenon was more prevalent with advancing age. Lindberg published his results as a thesis at the University of Helsinki in 1917. When attending a Nordic Congress of Ophthalmology in 1921, Lindberg met Norwegian ophthalmologist, Birger Malling, and gave him his thesis and explained the new findings. In 1920-21 Lindberg worked at Axenfeld's clinic in Freiburg, Germany. During this period he met in Basel, Switzerland, a Swiss ophthalmologist, Alfred Vogt. He told Vogt about his research and provided him with copies of his thesis. Both Malling and Vogt published papers on exfoliation in 1923 without referring to Lindberg's work. Lindberg did not, however, interfere with these papers. Thus Lindberg was forgotten by his contemporaries as a scientist. However, his main conclusions on exfoliation are still valid today. The life of this remarkable ophthalmologist is described in the present paper.