retinitis pigmentosa 91

Term ID

DOID:0061106

Synonyms

• RP91

Definition

A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/32817297/

References

• MIM:153870

Ontology

Human Disease   ( DOID:0061106 )