ocular cystinosis
Findings
No curated finding names ocular cystinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
Definition from the Mondo Disease Ontology (MONDO:0009064), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
6 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 crystalsHPOHP:0000531
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Elevated leukocyte cystineHPOHP:0032639
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Abnormal retinal morphologyHPOHP:0000479
- 0 of 4 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 0 of 4 reported patients
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.
- CTNSHGNC:2518
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: ocular cystinosis
- Also called
- adult-onset cystinosisnon-nephropathic cystinosis