Pattern dystrophies of the retinal pigment epithelium

Definition:

Patterned macular dystrophy (MDPT) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition above the RPE within the macular area. From middle age, affected individuals present with either normal or slightly diminished best corrected visual acuity (BCVA) and color vision; the activity of the RPE as measured by electro-oculogram (EOG) recordings may be abnormal. The disease is relatively benign, but it can progress with age to chorioretinal atrophy in the parafoveal and peripapillary regions.

References:

[1]. B E Nichols, et al. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet. 1993 Mar;3(3):202-7. [Content Brief]

[2]. Filipe Esteves, et al. Pattern dystrophy of the macula in a case of steinert disease. Case Rep Ophthalmol. 2013 Sep 21;4(3):129-33. [Content Brief]

[3]. Isabelle Meunier, et al. A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Hum Mol Genet. 2016 Mar 1;25(5):916-26. [Content Brief]

[4]. Nicole T M Saksens, et al. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. [Content Brief]

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