Features include always present findings: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Hyperautofluorescent macular lesion and others. 10 total HPO annotations.

ARSG encodes arylsulfatase G (525 aa). Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate. Highest expression in Brain Cerebellar Hemisphere (8.0 TPM) and Brain Cerebellum (7.7 TPM).

Usher syndrome, type 4 is associated with mutations in the ARSG gene on chromosome 17.

ARSG is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

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

Biomarker and diagnostic research for Usher syndrome, type 4 has been reported in the published literature.

Phenotype severity distribution: 9 always present features.

No clinical trials have been registered for Usher syndrome, type 4.

6 publications have been identified in PubMed for Usher syndrome, type 4. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Jiang Z (2026). [PMID: 40833306](https://pubmed.ncbi.nlm.nih.gov/40833306/). *Ophthalmol Retina*. [Case Report / Case Series]

• Kick GR (2025). [PMID: 41295716](https://pubmed.ncbi.nlm.nih.gov/41295716/). *Vet Sci*. [Case Report / Case Series]

• Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Bauwens M (2025). [PMID: 39199020](https://pubmed.ncbi.nlm.nih.gov/39199020/). *Clin Genet*. [Basic Science / Preclinical]

• de Guimaraes TAC (2024). [PMID: 39017633](https://pubmed.ncbi.nlm.nih.gov/39017633/). *Invest Ophthalmol Vis Sci*. [Diagnostic / Biomarker]