Dominant optic atrophy: correlation between clinical and molecular genetic studies.

摘要: . Purpose: To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA). Methods: The status family members was based on assessment visual acuity, colour vision, fields nerve appearance; 31 individuals were affected, two suspect 21 unaffected. A total 30 coding exons exon− intron boundaries OPA1 gene sequenced in order to detect mutations. Results: Half patients diagnosed at age ≤ 20 years. Ten out 20 affected followed up for ≥ 6 years had a progressive disease 10 stable disease. According WHO criteria, 36% visually handicapped. Eight pathogenic mutations, all but one novel, 18 neutral polymorphisms detected. Conclusion: The most sensitive indicators DOA disc pallor dyschromatopsia. With genetic analysis, asymptomatic mutation carriers cases mild outcome ascertained. No mutational hotspot or major could be demonstrated as carried unique mutation. obvious genotype− phenotype correlation detected. Detailed exclusion non-DOA prior screening are necessary obtaining high detection rate.