congenital stromal corneal dystrophy
Findings
No curated finding names congenital stromal corneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Definition from the Mondo Disease Ontology (MONDO:0012401), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
8 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.
- Corneal dystrophyHPOHP:0001131
- 11 of 11 reported patients · Neonatal onset
- StrabismusHPOHP:0000486
- 4 of 11 reported patients
- GlaucomaHPOHP:0000501
- 3 of 11 reported patients
- Band-shaped corneal dystrophyHPOHP:0007709
- 1 of 4 reported patients
- Corneal erosionHPOHP:0200020
- 0 of 11 reported patients
- PhotophobiaHPOHP:0000613
- 0 of 11 reported patients
- Increased corneal thicknessHPO
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.
- DCNHGNC:2705
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: congenital stromal corneal dystrophy
- Also called
- congenital hereditary stromal dystrophyCSCDWitschel dystrophy