retinitis pigmentosa 93

Term ID

DOID:0061105

Synonyms

• RP93

Definition

A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. https://pubmed.ncbi.nlm.nih.gov/30267408/

References

• MIM:619845

Ontology

Human Disease   ( DOID:0061105 )