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Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Features include: Clouding of the cornea (corneal dystrophy) and Crystalline corneal dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Clouding of the cornea (corneal dystrophy), Crystalline corneal dystrophy |
UBIAD1 function has not been fully characterized.
Schnyder corneal dystrophy is associated with mutations in the UBIAD1 gene on chromosome 1.
Genetic testing for UBIAD1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Schnyder corneal dystrophy.
9 publications have been identified in PubMed for Schnyder corneal dystrophy. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).
Mihai IT (2026). [PMID: 41746358](https://pubmed.ncbi.nlm.nih.gov/41746358/). *Die Ophthalmologie*. [Case Report / Case Series]
Stoyanova N (2025). [PMID: 40141754](https://pubmed.ncbi.nlm.nih.gov/40141754/). *Life (Basel, Switzerland)*. [Case Report / Case Series]
Bombuy Gimenez J (2025). [PMID: 40937252](https://pubmed.ncbi.nlm.nih.gov/40937252/). *Cureus*. [Case Report / Case Series]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]
Taki Y (2025). [PMID: 41236421](https://pubmed.ncbi.nlm.nih.gov/41236421/). *Cornea*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:17 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Schnyder corneal dystrophy
Jun DJ (2025). [PMID: 40372435](https://pubmed.ncbi.nlm.nih.gov/40372435/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Busin M (2024). [PMID: 37865907](https://pubmed.ncbi.nlm.nih.gov/37865907/). *Ophthalmology*. [Case Report / Case Series]