DOMINANT OPTIC ATROPHY MAPPED TO CHROMOSOME 3Q REGION .2. CLINICAL AND EPIDEMIOLOGIC ASPECTS

Sixty-two patients from three large Danish families,vith autosomal dom inant optic atrophy were clinically examined, and retrospective follow -up was made on 30 patients. We found great inter- and intrafamiliar v ariation in visual acuity and visual decline, One hundred and seventy- five chromosomal markers were analyzed in 118 family members, Linkage was demonstrated between the disease gene (OPA1) and the microsatellit e markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z=11.75. All markers are located on chromosome 30 in the telomeric area, the most probable location for the OPA1 gene being D3S1601-OPA1-D3S1265. Using data from the Danish Family Register of H ereditary Eye Diseases, the minimum prevalence rate was estimated to 1 :12.301, making DOA the most common hereditary optic atrophy.