REFINEMENT OF THE DOMINANT OPTIC ATROPHY LOCUS (OPA1) TO A 1.4-CM INTERVAL ON CHROMOSOME 3Q28-3Q29, WITHIN A 3-MB YAC CONTIG

Dominant optic atrophy, type Kjer, is an autosomal dominant eye diseas e that is characterized by progressive optic atrophy with onset in ear ly childhood, decrease of visual acuity, colour vision defects and cen trocecal scotoma. By examination of 5 Danish families and the use of p olymorphic markers, we have refined the localization of the OPA1 locus and assigned it to a 1.4-cM interval on chromosome 3q28-3q29, between markers D3S3669 and D3S3562. This localizes the gene on a 3-Mb YAC co ntig covering the disease locus. We have also located a possible candi date gene HRY to this contig.