"Ant-egg" cataract revisited.

Purpose: Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X-ray scans and electron microscopy.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis identified plausible disease-causing ITPR1 mutations in 10/10 additional GS-affected individuals.

In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy.

Purpose: To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency.

Methods: Twenty Norwegian subjects (40 eyes) with congenital aniridia and 9 healthy family members (18 eyes) without aniridia were examined. Clinical grade of aniridia-related keratopathy (ARK) was assessed by slit-lamp biomicroscopy, and tear production and quality, corneal thickness, and sensitivity were additionally measured.

Corneal involvement in congenital aniridia.

Purpose: The purpose of this research is 2-fold. First of all, the level of keratopathy development in patients with congenital aniridia is studied. In addition, a correlation between the effects of ocular surgery on the severity of keratopathy is made.

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous with mutations of 14 genes, accounting for approximately 70% of cases. Triallelic inheritance has been suggested in about 5% of cases.

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.

Purpose: This study aimed to identify the genetic cause of autosomal dominant pericentral retinal dystrophy (adPRD) in a large Norwegian family with 35 affected members.

Methods: The family was characterized by clinical ophthalmological examination along with fundus photography, dark adaptometry and electroretinography. We performed a genome-wide linkage analysis followed by sequencing of a candidate gene to identify the mutation causing the disease.

Epidemiology of aniridia in Sweden and Norway.

Purpose: To investigate the epidemiology of aniridia in the populations of Sweden and Norway.

Methods: A thorough search for aniridia patients has been performed in Sweden and Norway. All participants had a clinical ophthalmological examination documented through photography.

Aniridia among children and teenagers in Sweden and Norway.

Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment.

Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20.

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Purpose: To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation.

Methods: In addition to a clinical ophthalmological examination, fundus photography, dark adaptometry and electroretinography were performed. Four genes were analysed: rhodopsin (RHO); retinitis pigmentosa 1 (RP1); retinal degeneration slow/peripherin (RDS/peripherin), and inosine monophosphate dehydrogenase 1 (IMPDH1).

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

Purpose: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years.

Methods: Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The diagnosis was confirmed clinically as well as with molecular genetic studies.

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.

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.

[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.

[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.

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.

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.