Patterned dystrophy of retinal pigment epithelium

Common Name(s)

Patterned dystrophy of retinal pigment epithelium

Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by {10:Vaclavik et al., 2012}). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular Dystrophy Also see MDPT2 ({608970}), caused by mutation in the CTNNA1 gene ({116805}) on chromosome 5q31; and MDPT3 ({617111}), caused by mutation in the MAPKAPK3 gene ({602130}) on chromosome 3p21.
 

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Condition Specific Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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