Biomedical subjects

Ruth Riise

Publications and source records attributed to Ruth Riise.

6 recordsLinked to original sources

PubMed2006

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

PURPOSE: "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene. METHODS: The family (CC00103) was identified in a National Register of Hereditary Eye Diseases and updated based on The Danish Civil Register System. Genome wide linkage analysis and haplotyping using STS marker systems were carried out to achieve a LOD score above 3. The disease-causing candidate gene was sequenced and the mutation was identified and verified by restriction enzyme digestion of genomic DNA from all individuals in family CC00103 and 60 healthy controls. RESULTS: Linkage analysis resulted in a LOD score of 3.91 for marker D13S1275 located close to the known cataract gene GJA3. A novel missense mutation c.32T > C (L11S), was found by sequencing DNA from two affected members. The mutation was present in all affected individuals and was neither found in unaffected family members nor in 60 healthy individuals by restriction enzyme digests. CONCLUSIONS: The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain. Further studies are needed to unravel the mechanism leading to the formation of the "ant-eggs".

Amino Acid Sequence↗

PubMed2005

[Visual problems in cerebral stroke].

BACKGROUND: It is estimated that every year 13,000 persons in Norway have a cerebral stroke. Visual problems after cerebral stroke are frequent but visual rehabilitation is rarely performed. We wanted to estimate the frequency of a visual field defect being detected in patients with cerebral stroke during their stay in a medical department. MATERIAL AND METHODS: Twenty consecutive patients referred to the hospital with cerebral stroke had their visual field examined in the department of medicine with Donders' method. Eighteen of the patients could cooperate in an examination by eye clinic personnel in which visual acuity, eye motility and fundus of the eye were also examined. RESULTS: Visual acuity was mostly within normal limits. No patient had a visual acuity of less than 0.4. Two patients had homonymous visual field defects. Both were detected in the department of medicine. Disturbances of eye motility were detected in 10 patients. INTERPRETATION: Visual problems are common in patients with cerebral stroke. Homonymous defects in the visual field can be detected in the medical departments and visual training should be given. The nature of the disturbances in eye motility is not understood.

Aged↗

PubMed2005

Nordic research in ophthalmology.

Nordic ophthalmologists and vision scientists are active in many fields of eye research. This is most evident at the biannual Nordic Congress of Ophthalmology, most recently held in Malmö in June 2004. The authors here review some of the research in vision and ophthalmology presented at this meeting or published recently by Nordic scientists. This paper does not represent a comprehensive review of all Nordic research in the field, but attempts to give an overview of some of the activities underway in eye research in this part of the world.

Animals↗

PubMed2004

[Ocular changes in Down syndrome].

BACKGROUND, MATERIAL AND METHODS: Down's syndrome is the most common cause of mental retardation with an incidence of about 1.5/1000 live births. Life expectancy and quality of life have improved substantially for this group over the last decades. The aim of this paper is to give an updated short survey of ocular changes present in Down's syndrome based on current international literature and the clinical experience of the authors. RESULTS AND INTERPRETATION: Ocular problems are common, mostly refractive errors, poor accommodation, strabismus, cataract, and keratoconus. Accommodation deficit is present in a majority of individuals with Down's syndrome, also in children and young people. Bifocal or progressive glasses should therefore be prescribed liberally. Because of the high frequency of ocular pathology, all individuals with Down's syndrome should be enrolled in a continuous visual screening programme from birth. We suggest the following screening guidelines: first examination at one month of age, then at one year of age, at 2-3 years of age, at 5-6 years of age (school start), and thereafter every five years. In case of positive findings (e.g. refractive errors, poor accommodation, strabismus) the frequency of examination should be increased and determined individually by the responsible ophthalmologist.

Accommodation, Ocular↗

PubMed2003

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype. We recently identified BBS1, the gene most commonly involved in Bardet-Biedl syndrome. The identification of this gene allows for further evaluation of complex inheritance. In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations. We demonstrate that a common BBS1 missense mutation accounts for approximately 80% of all BBS1 mutations and is found on a similar genetic background across populations. We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance.

Amino Acid Sequence↗

PubMed2002

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

OBJECTIVE: To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene. METHODS: We examined 3 pairs of siblings with Bardet-Biedl syndrome in whom 3 different mutations in the BBS4 gene were detected, 2 of which were homozygous for the mutation. RESULTS: All patients had an increased body mass index. The obesity varied between families from moderate to severe. All of the males had hypogenitalism. All had brachydactyly and similar dental anomalies. Polydactyly was present in 5 of the 6 patients. The number and location of the extra digits varied even between siblings. The intelligence varied between families and was within the normal range in 4 individuals. One male had spinal stenosis with paraparesis of his legs. Four patients had increased blood pressure, but only 1 had impaired renal function. Severe retinitis pigmentosa with onset in early childhood was present in all patients. There were few abnormal retinal pigmentary deposits even at advanced stages. CONCLUSIONS: The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease. The combinations of clinical signs are mostly independent of the individual BBS4 mutation and can vary even within pairs of siblings. It is possible that there is a characteristic appearance of the ocular fundus in patients with BBS4 mutations.

Adolescent↗