Features include always present findings: Peripheral retinal avascularization; and very common findings: Reduced visual acuity. 16 total HPO annotations.

FZD4 encodes frizzled class receptor 4 (537 aa). Receptor for Wnt proteins. Highest expression in Adipose Subcutaneous (153.3 TPM) and Adipose Visceral Omentum (118.7 TPM).

Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene on chromosome 11.

The FZD4 protein participates in WNT5A-FZD4 recruits DVL2 and WNT5A-dependent internalization of FZD4 pathways.

FZD4 is classified as a druggable target (Cell Surface, Druggable Genome, G Protein Coupled Receptor, and Kinase categories) with score 26.1.

Genetic testing for FZD4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 6 common features.

No clinical trials have been registered for exudative vitreoretinopathy 1.

7 publications have been identified in PubMed for exudative vitreoretinopathy 1. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

• Yang L (2026). [PMID: 41526591](https://pubmed.ncbi.nlm.nih.gov/41526591/). *Scientific reports*. [Basic Science / Preclinical]

• Hung JH (2026). [PMID: 41981389](https://pubmed.ncbi.nlm.nih.gov/41981389/). *Ophthalmic Genet*. [Case Report / Case Series]

• Abu Serhan H (2026). [PMID: 41965841](https://pubmed.ncbi.nlm.nih.gov/41965841/). *Int J Retina Vitreous*. [Review / Meta-Analysis]

• Lähteenoja L (2025). [PMID: 38706142](https://pubmed.ncbi.nlm.nih.gov/38706142/). *Acta ophthalmologica*. [Epidemiology / Natural History]

• Shah S (2025). [PMID: 41244029](https://pubmed.ncbi.nlm.nih.gov/41244029/). *Journal of vitreoretinal diseases*. [Case Report / Case Series]