Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment), Reduced visual acuity, and Rod-cone dystrophy; and common findings: Abnormal vestibular function and Visual field defect. 6 total HPO annotations.

CLRN1 encodes clarin 1 (232 aa). May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina Highest expression in Adrenal Gland (2.3 TPM) and Testis (0.4 TPM).

Usher syndrome type 3A is associated with mutations in the CLRN1 gene on chromosome 3.

CLRN1 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for CLRN1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 common features.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for Usher syndrome type 3A. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Epidemiology / Natural History (13%).

Recent Publications

• Wentling M (2026). [PMID: 41572507](https://pubmed.ncbi.nlm.nih.gov/41572507/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Case Report / Case Series]

• Held IT (2026). [PMID: 42133691](https://pubmed.ncbi.nlm.nih.gov/42133691/). *PLoS One*. [Gene Therapy / Novel Therapeutics]

• Gélvez N (2025). [PMID: 41060164](https://pubmed.ncbi.nlm.nih.gov/41060164/). *Biomedica : revista del Instituto Nacional de Salud*. [Case Report / Case Series]

• Nonarath HJT (2025). [PMID: 40067805](https://pubmed.ncbi.nlm.nih.gov/40067805/). *PLoS genetics*. [Basic Science / Preclinical]

• Serra R (2024). [PMID: 39044131](https://pubmed.ncbi.nlm.nih.gov/39044131/). *BMC ophthalmology*. [Basic Science / Preclinical]