Mondo Description Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.
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.
Disease Ontology Description A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.
Mondo Term and Equivalent IDs
MONDO:0013437: retinitis pigmentosa 43