retinitis pigmentosa 86

Term ID

DOID:0112143

Synonyms

• RP86

Definition

A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. https://pubmed.ncbi.nlm.nih.gov/30120214/

References

• OMIM:618613

Ontology

Human Disease   ( DOID:0112143 )