autosomal dominant retinitis pigmentosa 96

Term ID

DOID:0061104

Synonyms

• RP96

Definition

A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/28549094/

References

• MIM:620228

Ontology

Human Disease   ( DOID:0061104 )