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helicoid peripapillary chorioretinal degeneration (SCRA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

helicoid peripapillary chorioretinal degeneration

MONDO:0007176

Also known as:SCRASveinsson chorioretinal atrophyatrophia areata

Overview

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.

GeneticsAutosomal dominant · TEAD1 (chr 11)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Astigmatism, Peripapillary chorioretinal atrophy, and Myopia.

Organ System	Phenotype Count	Example Features
Muscles	1	Peripapillary chorioretinal atrophy

Explore clinical features

Genetic Landscape

TEAD1 function has not been fully characterized.

Helicoid peripapillary chorioretinal degeneration is associated with mutations in the TEAD1 gene on chromosome 11.

Diagnosis

Genetic testing for TEAD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for helicoid peripapillary chorioretinal degeneration.

3 publications have been identified in PubMed for helicoid peripapillary chorioretinal degeneration. Research spans Case Report / Case Series (67%) and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Kozek LK (2026). [PMID: 41343191](https://pubmed.ncbi.nlm.nih.gov/41343191/). *JAMA ophthalmology*. [Case Report / Case Series]
Sharma M (2026). [PMID: 42249862](https://pubmed.ncbi.nlm.nih.gov/42249862/). *Ophthalmol Retina*. [Gene Therapy / Novel Therapeutics]
Murati Calderon RA (2025). [PMID: 40984966](https://pubmed.ncbi.nlm.nih.gov/40984966/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108985

Orphanet

European rare disease database

Orphanet:86813

GARD

Genetic and Rare Diseases Info Center

GARD:16757

Questions for Your Care Team

→Should I pursue genetic testing for TEAD1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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helicoid peripapillary chorioretinal degeneration

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team