Back to All TypesOMIM #614186
LCA16
KCNJ13
Potassium channel Kir7.1; critical for RPE ion transport
Preclinical Research
No clinical trial or company program. Academic proof-of-concept: nonviral adenine base editing of a KCNJ13 nonsense mutation (W53X) preserved vision in a mouse model (Kabra et al., J Clin Invest 2023), and gene augmentation / readthrough rescued function in patient iPSC-derived RPE (Shahi et al., Am J Hum Genet 2019). Work led by academic groups (UW-Madison); models: mouse and patient iPSC-RPE.
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.
Chromosomal Locus
2q37.1
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1RPE potassium channel dysfunction
- 2Very rare