gelatinous drop-like corneal dystrophy
Findings
No curated finding names gelatinous drop-like corneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Definition from the Mondo Disease Ontology (MONDO:0008777), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Blurred visionHPOHP:0000622
- Childhood onset
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Childhood onset
- Very frequent (80% to 99% of cases)
- BlepharospasmHPOHP:0000643
- Frequent (30% to 79% of cases)
- Conjunctival amyloidosisHPOHP:0010637
- Frequent (30% to 79% of cases)
- Corneal foreign body sensationHPOHP:0034804
- Frequent (30% to 79% of cases)
- Corneal neovascularizationHPOHP:0011496
- Frequent (30% to 79% of cases)
Show the remaining 1
- Visual impairmentHPOHP:0000505
- Young adult onset
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.
- TACSTD2HGNC:11530
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: gelatinous drop-like corneal dystrophy
- Also called
- corneal amyloidosisGDCDprimary familial amyloidosis of the corneasubepithelial amyloidosis of the cornea