Back to All TypesOMIM #618513
LCA19
USP45
Ubiquitin-specific peptidase 45; a deubiquitinating enzyme enriched in photoreceptor inner segments. Indispensable for maintenance of photoreceptor function. Identified by Yi et al. (2019) in two unrelated Chinese families with LCA.
No Targeted Treatment Yet
Chromosomal Locus
6q16.2
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1Reduced vision in early childhood
- 2Severely reduced rod and cone responses on ERG
- 3Deubiquitinating enzyme deficiency in photoreceptors