retinitis pigmentosa 108

Term ID

DOID:0051101

Synonyms

Definition

A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. https://pubmed.ncbi.nlm.nih.gov/41742423/

References

• MIM:621637

Ontology

Human Disease   ( DOID:0051101 )