Mondo Description Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.
Uniprot Description An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Disease Ontology Description A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.
Mondo Term and Equivalent IDs
MONDO:0013786: cone-rod dystrophy 16