North Carolina Macular Dystrophy

Abstract

North Carolina macular dystrophy (NCMD) is a congenital, developmental abnormality of the macula. It was first described in families living in western North Carolina by Lefler, Wadsworth, and Sidbury in 1971 and initially called autosomal dominant macular degeneration and aminoaciduria (Lefler et al. 1971). Subsequently this disease became known as the Lefler Wadsworth Sidbury syndrome. However, the aminoaciduria was later found to not consistently manifest in the affected family members, making this a misnomer in that it is not a syndrome at all. J Donald M. Gass, MD named NCMD after the founder effect of this initial family in his textbook Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment (Gass 1997). However, NCMD has now been described in many unrelated families from the United States, the United Kingdom, France, Germany, Korea, and Belize (Small 1998; Reichel et al. 1998; Pauleikhoff et al. 1997).