NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease c ausing a variable reduction of visual acuity with an insidious onset i n the first six years of life. It is associated with a central scotoma and an acquired blue-yellow dyschromatopsia. A gene for dominant opti c atrophy (OPA1) has recently been mapped to chromosome 3q in three la rge Danish pedigrees. Here, we confirm the mapping of OPA1 to chromoso me 3q28-qter by showing close linkage of the disease locus to three re cently reported microsatellite DNA markers in the interval defined by loci D3S1314 and D3S1265 in four French families (Zmax= 5.13 at theta= 0 for probe AFM 308yf1 at locus D3S1601). Multipoint analysis supports the mapping of the disease gene to the genetic interval defined by lo ci D3S1314 and D3S1265. The present study provides three new markers c losely linked to the disease gene for future genetic studies in OPA.