Mondo Description Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
Uniprot Description A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Disease Ontology Description A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.