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Hereditary optic atrophy with probable association with a specific HLA haplotype

Authors
Journal
Journal of the Neurological Sciences
0022-510X
Publisher
Elsevier
Publication Date
Volume
38
Issue
1
Identifiers
DOI: 10.1016/0022-510x(78)90241-1
Disciplines
  • Medicine

Abstract

Abstract 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.

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