To lump or to split?

Abstract

Using careful family studies and through the construction of an accurate pedigree, Kent Small succeeded in bringing together several branches of one family with so-called ‘North Carolina Macular Dystrophy’. The variability in the phenotype and the small numbers of individuals in each branch had led previous investigators to believe that they were dealing with different diseases. A number of names were given to the same retinal dystrophy. In this issue of our Journal, Small and coworkers review the clinical findings of this disease and refine their previously published mapping studies that placed the disease locus on chromosome 6q. Also in this issue, Chopdar describes the clinical findings of a variant of central areolar choroidal dystrophy in a five-generation family from Great Britain. Members of this family have a progressive macular dystrophy with visual loss starting in the second or third decade of life, as opposed to the stable visual course of patients with North Carolina macular dystrophy who do ...