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Meshers macroreticular dystrophy of retinal pigment epithelium (butterfly-shaped dystrophy of retinal pigment epithelium) 7


Meshers Macroreticular Dystrophy of Retinal Pigment Epithelium (Butterfly-Shaped Dystrophy of
Retinal Pigment Epithelium) 333d35d 333d35d 333d35d 333d35d 333d35d 7

General: Autosomal recessive; autosomal dominant inheritance has been reported.

Ocular: Butterfly-shaped dystrophies of retinal pigment epithelium; macular degeneration associated with fundus flavimaculatus; drusen of Bruch membrane; choroidal folds; bull's-eye degeneration of macula; detachment of pigment epithelium.

Clinical: None.

Bastiaensen LA, et al. Patterned anomalies of the retinal pigment epithelium: dystrophy or syndrome? Doc Ophthalmol 1983; 5: 17-29.

Girard P, et al. Macroreticular and butterfly shaped dystrophies of the retinal pigment epithelium. J Fr Ophthalmol 1980; 3:101-l08.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Nichols BE. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993; 3:202-207.




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