Back to All TypesOMIM #610612
LCA12
RD3
Retinal degeneration 3; involved in guanylate cyclase trafficking
Preclinical Research
No clinical trial or company program. Academic proof-of-concept only: AAV-mediated RD3 gene delivery restored guanylate-cyclase localization and rescued photoreceptors in the Rd3 mouse model of LCA (Molday et al., Human Molecular Genetics 2013).
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
1q32.3
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1Very rare
- 2Severe early-onset retinal degeneration
- 3Guanylate cyclase trafficking defect