retinitis pigmentosa 97

Term ID

DOID:0061110

Synonyms

• RP97

Definition

A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. https://pubmed.ncbi.nlm.nih.gov/37012052/

References

• MIM:620422

Ontology

Human Disease   ( DOID:0061110 )