snowflake vitreoretinal degeneration
Findings
No curated finding names snowflake vitreoretinal degeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.
Definition from the Mondo Disease Ontology (MONDO:0008663), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 5 of 6 reported patients
- Corneal guttataHPOHP:0012038
- 4 of 5 reported patients
- Snowflake vitreoretinal degenerationHPOHP:0011533
- 4 of 6 reported patients
- Retinal detachmentHPOHP:0000541
- 3 of 14 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNJ13HGNC:6259
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of