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37 records – page 1 of 4.

Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.

https://arctichealth.org/en/permalink/ahliterature205654
Source
Acta Ophthalmol Scand. 1998 Apr;76(2):196-203
Publication Type
Article
Date
Apr-1998
Author
H. Forsius
M. Damsten
A W Eriksson
J. Fellman
S. Lindh
E. Tahvanainen
Author Affiliation
The Folkhälsan Institute of Genetics, Helsinki, Finland.
Source
Acta Ophthalmol Scand. 1998 Apr;76(2):196-203
Date
Apr-1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 12
Cornea - abnormalities - pathology - physiopathology
Female
Finland
Genes, Dominant
Genes, Recessive
Humans
Incidence
Infant
Male
Middle Aged
Pedigree
Visual Acuity - physiology
Abstract
To review the literature of autosomal recessive cornea plana (RCP) and to perform a clinical and genetic study on this disorder in Finland. The 78 Finnish RCP patients represent the majority of RCP cases worldwide; outside Finland only 35 cases have been reported.
Families with RCP, particularly in northern Finland, have been followed up by the senior author since the 1950s and extensive genealogical studies have been made.
The most typical symptoms are greatly reduced corneal refraction, 25-35 dioptres, causing strong hyperopia, slight microcornea, an extended limbus zone, a central, deep corneal opacity and a marked arcus senilis, seen even before the age of 20. We present a pedigree comprising 33 affected persons with cornea plana. We have mapped the two genes for the dominantly and the recessively inherited type of cornea plana to the same region on the long arm of chromosome 12, (12q21).
In northern Finland RCP has a higher frequency than elsewhere, probably as a result of a strong founder effect in the population that arrived in these regions approx. 400 years ago. The strong accumulation of this rare disease in these isolated areas and the strong genealogical connections between different families with RCP, suggest that probably all the Finnish RCP cases are caused by the same mutation.
PubMed ID
9591953 View in PubMed
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Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.

https://arctichealth.org/en/permalink/ahliterature235307
Source
Clin Genet. 1987 May;31(5):315-22
Publication Type
Article
Date
May-1987
Author
E M Sankila
A. de la Chapelle
J. Kärnä
H. Forsius
R. Frants
A. Eriksson
Source
Clin Genet. 1987 May;31(5):315-22
Date
May-1987
Language
English
Publication Type
Article
Keywords
Alleles
Choroid
Epidemiologic Methods
Female
Finland
Gene Frequency
Genetic Linkage
Humans
Male
Pedigree
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis
Uveal Diseases - diagnosis - genetics
X Chromosome
Abstract
Linkage studies using restriction fragment length polymorphisms were conducted in the X-linked disorder, choroideremia, designated TCD for Progressive Tapeto-Choroidal Dystrophy. Previously demonstrated close linkage with locus DXYS1 was confirmed (lod 11.44 at 0 recombination distance). In addition, locus DXYS12 was found to be closely linked with TCD (lod 3.31 at 0 recombination distance). The disease mainly occurs in three large kindreds in remote Northern Finland. While formal genealogical proof is lacking, all presently living (more than 80 affected males and 120 carrier females) probably originate from a common founder couple born in 1644 and 1646, twelve generations ago. All 36 patients and 48 carriers tested from the three kindreds had the same haplotype (TCD/DXYS1, 11kb/DXYS12, 1.6kb). Given that at least 105 female meioses transmitting TCD have occurred since 1650 in these kindreds, extremely close linkage between TCD, DXYS1 and DXYS12 is suggested. The above haplotype is a very useful diagnostic tool in these TCD families. We suggest that our historical-genealogical approach to linkage analysis may be possible elsewhere in similar isolated populations.
PubMed ID
2886237 View in PubMed
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Colour blindness in Finland. 1. Frequency of protans and deutans. 2. Family studies on minor deviations of the normal mid matching point using the anomalscope.

https://arctichealth.org/en/permalink/ahliterature110901
Source
Acta Ophthalmol (Copenh). 1968;46(3):542-52
Publication Type
Article
Date
1968

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.

https://arctichealth.org/en/permalink/ahliterature215558
Source
Genomics. 1995 Mar 20;26(2):290-3
Publication Type
Article
Date
Mar-20-1995
Author
E. Tahvanainen
H. Forsius
E. Karila
S. Ranta
M. Eerola
J. Weissenbach
P. Sistonen
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Genomics. 1995 Mar 20;26(2):290-3
Date
Mar-20-1995
Language
English
Publication Type
Article
Keywords
Adult
Child
Chromosome Mapping
Chromosomes, Human, Pair 12
Cornea - abnormalities - embryology
Corneal Dystrophies, Hereditary - epidemiology - genetics
Female
Finland - epidemiology
Genes, Recessive
Genetic markers
Humans
Lod Score
Male
Recombination, Genetic
Abstract
We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease.
PubMed ID
7601455 View in PubMed
Less detail
Source
Z Morphol Anthropol. 1970 Feb;62(1):61-99
Publication Type
Article
Date
Feb-1970

Exfoliation syndrome in various ethnic populations.

https://arctichealth.org/en/permalink/ahliterature5423
Source
Acta Ophthalmol Suppl. 1988;184:71-85
Publication Type
Article
Date
1988
Author
H. Forsius
Author Affiliation
Department of Ophthalmology, University of Oulu, Finland.
Source
Acta Ophthalmol Suppl. 1988;184:71-85
Date
1988
Language
English
Publication Type
Article
Keywords
Africa
Anterior Eye Segment
Asia
Cross-Sectional Studies
Europe
Eye Diseases - epidemiology - ethnology - pathology
Glaucoma - epidemiology
Glaucoma, Open-Angle - epidemiology
Humans
Lens Diseases - epidemiology - ethnology
North America
South America
Syndrome
Abstract
This introductory lecture to the epidemiological session in the Workshop on the Exfoliation Syndrome (ES) gathers together figures for the prevalence of ES around the world. Prevalence figures from published reports are shown in the text separately for each country. Four ways of comparing the prevalences are used. 1) Prevalences in people over 60 years of age, 2) Percentages of glaucoma in persons with ES, 3) Percentages of ES in patients with glaucoma or ocular hypertension, with separate statistics for the proportion of capsular glaucoma in patients treated with laser trabeculoplasty (LTP), 4) Prevalence of ES in patients with cataract. The major differences in prevalence can partly be explained by the different techniques used in the investigations. Very few authors have studied people in different countries, which is the best way of obtaining comparable results. The author has personally studied Finns, Lapps, Eskimos in Greenland, Canada and Alaska, Icelanders, populations in Tunis, India and Peru and four populations in the USSR by the same technique. The prevalences vary from 0% in Eskimos to 21% in Finns over 60 years of age, and are at the same high level in Lapps, Finns, Russians in Novosibirsk and Icelanders, but significantly lower in all the others. The results support the opinion that ES is not uniformly distributed in all countries, and this is confirmed by many reports from different countries in this workshop.
PubMed ID
2853925 View in PubMed
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37 records – page 1 of 4.