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

ABSTRACT:

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.313A>G variant and three individuals with FZD4 c.40_49del were included in the study. The clinical phenotype was variable even among family members with the same FZD4 variant. Only 34% (N = 12/35) of variant-positive individuals had been clinically diagnosed with FEVR. The median age of the onset of symptoms was 2.3 years, ranging between 0 to 25 years. Median visual acuity was 0.1 logMAR (0.8 Snellen decimal), ranging between light perception and -0.1 logMAR (1.25 S

SUBMITTER: Lahteenoja L 

PROVIDER: S-EPMC11810545 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature