SORSBYS FUNDUS DYSTROPHY IS GENETICALLY LINKED TO CHROMOSOME 22Q13-QTER

Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degen eration developing in the third or fourth decade. Patients lose centra l vision from subretinal neovascularization and atrophy of the chorioc apillaris, pigment epithelium and retina. SFD shares some striking cli nical features with age-related macular degeneration (AMD), the most c ommon cause of blindness in western countries thereby providing a valu able genetic model for AMD. To map the SFD locus, we performed linkage analysis in a single large SFD family. After exclusion of approximate ly 65% of the autosomal genome, we found significant linkage to severa l markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13-qter between D22S275 and D22S274.