| Metadata | |
|---|---|
| ID | DOID:0051101 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051101 Copy |
| Name | retinitis pigmentosa 108 |
| 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/ |
| Xrefs | |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
existence starts during some Middle age onset has material basis in some autosomal recessive inheritance |