CABP4
Calcium-binding protein 4; modulates voltage-dependent calcium channels (Cav1.4) at photoreceptor synaptic terminals. Essential for photoreceptor synaptic transmission. Null mutations produce an LCA-like phenotype; traditionally associated with congenital stationary night blindness (CSNB).
Preclinical Research
No clinical trial or company program. Academic proof-of-concept: AAV-mediated CABP4 gene augmentation restored synaptic function and vision — with synaptic-ribbon maturation and outer-plexiform-layer reorganization — in the first naturally occurring CABP4-mutant dog model (Beckwith-Cohen et al., Molecular Therapy 2026; Michigan State University).
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page yet.
11q13.1
Autosomal Recessive
<1% of LCA cases
Key Clinical Features
- 1No official LCA subtype number assigned
- 2Phenotypic overlap between LCA and congenital stationary night blindness (CSNB)
- 3Photoreceptor synaptic transmission defect
- 4Null CABP4 mutations produce LCA phenotype; milder mutations cause CSNB