You are using an outdated browser. Please upgrade your browser to improve your experience.

cone dystrophy 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.
Uniprot Description An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Disease Ontology Description A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in GUCA1A on chromosome 6p21.1.
Mondo Term and Equivalent IDs
MONDO:0011193:  cone dystrophy 3
UMLS:C1865869: