| Term Name: | retinitis pigmentosa 101 |
|---|---|
| Synonyms: | |
| Definition: | A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. |
| Ontology: | Human Disease [DOID:0061299] ( DOID:0061299 ) |