Mondo Description A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.
Uniprot Description A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Mondo Term and Equivalent IDs
MONDO:0011974: retinitis pigmentosa 7