Hereditary optic atrophy with probable association with a specific HLA haplotype.
A family with hereditary optic atrophy in 4 members of 3 generations is described. The clinical findings differ from those previously observed in hereditary optic atrophy and in Leber's disease, indicating that the hereditary optic atrophy described in this report represents a new disease entity, which is inherited in an autosomal, dominant way with incomplete penetrance. Analyses of the cerebrospinal fluid and serum did not reveal signs of immunoglobulin synthesis within the central nervous system, i.e. findings encountered in a considerable proportion of patients with optic neuritis. An association was found between the family members affected by the disease and the major histocompatibility system haplotype A2 B8. A linkage thus occurred between the disease and the HLA region on human chromosome No. 6.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007959:Lymphocyte Culture Test, Mixed; D008297:Male; D008875:Middle Aged; D009896:Optic Atrophy / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000276:immunology; D010375:Pedigree
D006680:HLA Antigens