Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.

Familial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway also causes syndromic forms of the condition. Both heterozygous and biallelic pathogenic variants in the FZD4 gene, encoding the pathway's key protein frizzled-4, are known to cause FEVR.

Uveitis in Juvenile Idiopathic Arthritis: 18-Year Outcome in the Population-based Nordic Cohort Study.

Purpose: To assess the long-term outcome of uveitis in juvenile idiopathic arthritis (JIA).

Design: Population-based, multicenter, prospective JIA cohort, with a cross-sectional assessment of JIA-associated uveitis (JIA-U) 18 years after the onset of JIA.

Participants: A total of 434 patients with JIA, of whom 96 had uveitis, from defined geographic areas of Denmark, Finland, Norway, and Sweden.

Incidence and predictors of Uveitis in juvenile idiopathic arthritis in a Nordic long-term cohort study.

Background: The incidence of uveitis associated with juvenile idiopathic arthritis (JIA) varies around the world. Our aim was to investigate the incidence and predictors of uveitis in a Nordic population-based cohort.

Methods: Consecutive JIA cases from defined geographical areas in Denmark, Finland, Sweden and Norway with disease onset between January 1997 to June 2000 were followed for median 98 months in this prospective longitudinal cohort study.

Vitamin D and intraocular pressure--results from a case-control and an intervention study.

Purpose:   To study the associations between serum 25-hydroxy-vitamin D (25(OH)D) levels, vitamin D administration and intraocular pressure (IOP).

Methods:   The design of the study included a nested case-control study and a randomized controlled intervention trial. In the first part, healthy Caucasians with high or low serum 25(OH)D levels were recruited from a population-based study.

The potential of digital monochrome images versus colour slides in telescreening for diabetic retinopathy.

We explored the potential of digital monochrome images as an alternative to colour slides in screening for diabetic retinopathy. Twenty-eight patients with diabetes were recruited for the study and 20 actually participated. Using a fundus camera (Nikon 505AF) one set of three digital images and one set of three colour slides were taken per eye.

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).