Features include always present findings: Photophobia, Reduced visual acuity, and Optic disc pallor; and very common findings: Central scotoma. 6 total HPO annotations.

ITM2B encodes integral membrane protein 2B (266 aa). Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Highest expression in Ovary (241.1 TPM) and Whole Blood (208.7 TPM).

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is associated with mutations in the ITM2B gene on chromosome 13.

ITM2B is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for ITM2B is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 1 very common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies.

3 publications have been identified in PubMed for retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Clinical Trial Publication (50%).

Recent Publications

• Lin S (2026). [PMID: 41810893](https://pubmed.ncbi.nlm.nih.gov/41810893/). *Investigative ophthalmology &amp; visual science*. [Case Report / Case Series]

• Coppé AM (2025). [PMID: 41268980](https://pubmed.ncbi.nlm.nih.gov/41268980/). *Investigative ophthalmology &amp; visual science*. [Clinical Trial Publication]