helicoid peripapillary chorioretinal degeneration
Findings
No curated finding names helicoid peripapillary chorioretinal degeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Definition from the Mondo Disease Ontology (MONDO:0007176), read 2026-09-29. CC BY 4.0.
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.
- TEAD1HGNC:11714
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: helicoid peripapillary chorioretinal degeneration
- Also called
- atrophia areataSCRASveinsson chorioretinal atrophy