patterned macular dystrophy 3

Term ID

DOID:0060865

Synonyms

• Martinique crinkled retinal pigment epitheliopathy
• MDPT3

Definition

A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/26744326

References

• OMIM:617111

Ontology

Human Disease   ( DOID:0060865 )