Doyne revisited

Abstract

Inherited retinal dystrophies are important causes of blindness in the Western world. Molecular genetic techniques, and the use of large pedigrees exhibiting such conditions, have been instrumental in finding causative disease genes. The genealogy of families, with a rare condition known as Doyne's honeycomb retinal degeneration was first described in 1899. Investigating this phenotype is extremely important because of the similarities it shares, with age-related macular degeneration, and it may lead us to a gene that is involved in this complex genetic trait. In this paper we review the original genealogy of the families described by Doyne, and explain the methods used to identify the living descendants of these families.