Bruch membrane drusen 179

General: Autosomal dominant; round or oval lesions in grape like clusters in the posterior polar region; found on the vitreal side of Bruch membrane, secreted by the retinal pigment epithelial cells, apparently secondary to an inborn error of metabolism localized in the retinal pigment epithelium.

Ocular: Crystalline retinal degeneration; Doyne honeycomb choroiditis; fleck retina disease; macular edema; macular hemorrhage; pigmentary disturbances with secondary calcifications; central scotomata.

Clinical: None.

Deutman AF, Jansen LA. Dominantly inherited drusen of Bruch's membrane. Br J Ophthalmol 1970; 54:372-382.

Deutman AF. Macular dystrophies. In: Ryan SJ, ed. Retina. vol. II 2nd ed. St. Louis: Mosby, 1994.

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/.