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IQCB1
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.
No Targeted Treatment Yet
Chromosomal Locus
3q21.1
Inheritance
Autosomal Recessive
Frequency
<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)