Features include always present findings: Ultra-low vision with no light perception, Esotropia, and Leukocoria; and sometimes findings: Iris coloboma and Uveitis. 20 total HPO annotations.

Age of onset: at birth.

ATOH7 encodes atonal bHLH transcription factor 7 (152 aa). Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3'. Dimerization with TCF3 isoform E47 may be required in certain situations. Highest expression in Brain Cerebellar Hemisphere (5.4 TPM) and Brain Frontal Cortex BA9 (4.1 TPM).

Persistent hyperplastic primary vitreous, autosomal recessive is associated with mutations in the ATOH7 gene on chromosome 10.

ATOH7 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for ATOH7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for persistent hyperplastic primary vitreous, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

1 clinical trial registered, 1 recruiting. Interventions under study include medical devices. Pipeline includes 1 PHASE4. Research is primarily sponsored by academic and government institutions.

74 publications have been identified in PubMed for persistent hyperplastic primary vitreous, autosomal recessive. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (12%), and Clinical Trial Publication (12%).