Progressive Foveal Dystrophy (Central Retinal Pigment Epithelial Dystrophy)
General: Autosomal dominant; onset late in the first 444d32e decade of life.
Ocular: Progressive foveal dystrophy; pigmentary changes and drusen of the macula; normal electroretinogram; subnormal electrooculogram.
Clinical: Generalized aminoaciduria; increased glycine levels.
Deutman AF. Macular dystrophies. In: Ryan S, ed. Retina. St. Louis: Mosby, 1994:214-l215.
Klein R, Bresnick G. An inherited central retinal pigment epithelial dystrophy. Birth Defects 1982; 189:281-296.
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/.
Johnson Syndrome (Adherence Syndrome; Adherent Lateral Rectus Syndrome) General: Congenital delayed development; [...] |
Cogan (2) Syndrome (Oculomotor Apraxia Syndrome; Wieacker Syndrome) [...] |
Porokeratosis [...] |
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