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Features include always present findings: Optic disc pallor; and common findings: Nystagmus. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Nystagmus, Retinal degeneration, Visual impairment |
Age of onset: childhood.
USP45 function has not been fully characterized.
Leber congenital amaurosis 19 is associated with mutations in the USP45 gene on chromosome 6.
Genetic testing for USP45 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for Leber congenital amaurosis 19.
1 publication has been identified in PubMed for Leber congenital amaurosis 19. Research spans Review / Meta-Analysis (100%).
Liu X (2024). [PMID: 39060957](https://pubmed.ncbi.nlm.nih.gov/39060957/). *Mol Med*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 19