Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

Purpose: To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population.

Methods: Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed.

Results: Thirty-two individuals with FZD4 c.

A novel frameshift variant in associated with nonsyndromic retinitis pigmentosa, and a review of -related phenotypes.

Background: Pathogenic variants in the gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of variants in the literature to date and present a novel variant of , c.1261_1262delinsA, in a consanguineous northern Finnish family with two individuals.

MULTIMODAL IMAGING DURING THE EVOLUTION OF BLOOD-BRAIN BARRIER DISRUPTION MACULOPATHY.

Purpose: To highlight the course of blood-brain barrier disruption maculopathy in a patient with successfully managed relapsed central nervous system lymphoma.

Methods: Case report with fundus autofluorescence and optical coherence tomography imaging, and literature review.

Results: A 57-year-old patient diagnosed with central nervous system large B-cell lymphoma had a normal ophthalmic evaluation on his first visit.

Prevalence of diabetic retinopathy in young adults with type 1 diabetes since childhood: the Oulu cohort study of diabetic retinopathy.

Purpose: To evaluate the prevalence and stage of diabetic retinopathy (DR) in a population-based cohort of young Finnish adults who have had type 1 diabetes (T1D) since childhood.

Material And Methods: The cohort includes all 5- to 16-year-old patients with T1D who lived in the Northern Ostrobothnia Hospital District of Finland, in 1989 (n = 216). DR was evaluated from fundus photographs taken in 1989-1990 and again in 2007.

Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.

Background: Variants in the complement cascade genes and the LOC387715/HTRA1, have been widely reported to associate with age-related macular degeneration (AMD), the most common cause of visual impairment in industrialized countries.

Methods/principal Findings: We investigated the association between the LOC387715 A69S and complement component C3 R102G risk alleles in the Finnish case-control material and found a significant association with both variants (OR 2.98, p = 3.

Photodynamic therapy with verteporfin to induce regression of aggressive retinal astrocytomas.

Purpose: To evaluate the effect of photodynamic therapy (PDT) with verteporfin on symptomatic, aggressive retinal astrocytomas.

Methods: A prospective, interventional study in a tertiary referral centre. Two patients were treated with a single session of PDT using the standard parameters of the Verteporfin in Photodynamic Therapy (VIP) study: a 34-year-old man whose previously stationary juxtapapillary retinal astrocytoma, secondary to tuberous sclerosis, progressed within 7 months to involve the foveola; and a 68-year-old man whose acquired retinal astrocytoma progressed over 18 months in spite of standard photocoagulation.

Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.

Purpose: A strong association of a Tyr402His polymorphism in the complement factor H (CFH) gene and a Met299Val polymorphism in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with age-related macular degeneration (AMD) has been identified in Caucasian populations in the United States. Earlier a Gln5345Arg variant in the hemicentin 1 (HMCN1) gene was reported in a large AMD family in the United States. We wanted to investigate whether the polymorphisms of the CFH and the ELOVL4 genes or the mutation of the HMCN1 gene are associated with AMD in patients originating from the Finnish population with characteristics of a genetic isolate.

Persistence of indentation with bioabsorbable poly-L/D-lactide versus silicone sponge scleral buckling implants.

Purpose: To measure the amount and duration of indentation depth achieved with biodegradable poly-L/D-lactide 96/4 (PLA96) and silicone sponge implants.

Methods: Thirty rabbits underwent a scleral buckling procedure. A PLA96 buckling implant was used in 15 rabbits and a silicone sponge buckling implant was in 15 rabbits.