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.

Temel Klinik Özellikler

• 1Reduced vision in early childhood
• 2Severely reduced rod and cone responses on ERG
• 3Deubiquitinating enzyme deficiency in photoreceptors