IQCB1
IQ motif-containing protein B1 (NPHP5); localizes to the connecting cilium of photoreceptors and to primary cilia. Interacts with CEP290. Mutations can cause isolated LCA without nephronophthisis, or Senior-Loken syndrome when renal involvement is present.
Preclinical Research
No clinical trial or company program. Academic proof-of-concept: AAV-mediated IQCB1/NPHP5 gene augmentation reformed photoreceptor structure and restored vision in a naturally occurring NPHP5-mutant dog model, with rescue also shown in patient-derived retinal organoids (Aguirre et al., Molecular Therapy 2021; University of Pennsylvania).
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.
3q21.1
Autosomal Recessive
<1% of LCA cases
Key Clinical Features
- 1No official LCA subtype number assigned
- 2Ciliary protein that interacts with CEP290
- 3LCA can occur without renal involvement (isolated retinal phenotype)
- 4When combined with nephronophthisis: Senior-Loken syndrome
Syndromic Associations
Patients with IQCB1 mutations should be monitored for potential involvement of other organs:
- Senior-Loken syndrome (retinal-renal ciliopathy)