Features include always present findings: Cataract, Microcornea, Reduced visual acuity, and Rod-cone dystrophy; and sometimes findings: Posterior staphyloma.

Age of onset: at birth, adolescence.

ARL2 encodes ARF like GTPase 2 (184 aa). Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Highest expression in Nerve Tibial (337.8 TPM) and Brain Nucleus accumbens basal ganglia (278.3 TPM).

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 is associated with mutations in the ARL2 gene on chromosome 11.

The ARL2 protein participates in ARL2:GTP bind PDE6D on KRAS4B pathway.

ARL2 is classified as a druggable target with score 2.6.

Genetic testing for ARL2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1.

6 publications have been identified in PubMed for microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (33%), and Epidemiology / Natural History (17%).

Recent Publications

• Lu QX (2026). [PMID: 42014342](https://pubmed.ncbi.nlm.nih.gov/42014342/). *Sheng Li Xue Bao*. [Basic Science / Preclinical]

• Ni RL (2026). [PMID: 41991505](https://pubmed.ncbi.nlm.nih.gov/41991505/). *Ophthalmic Genet*. [Basic Science / Preclinical]

• Sæther E (2026). [PMID: 41627933](https://pubmed.ncbi.nlm.nih.gov/41627933/). *Acta Ophthalmol*. [Epidemiology / Natural History]

• Taheri A (2025). [PMID: 41461644](https://pubmed.ncbi.nlm.nih.gov/41461644/). *Nat Commun*. [Basic Science / Preclinical]

• Gao X (2025). [PMID: 41645371](https://pubmed.ncbi.nlm.nih.gov/41645371/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]