Heterogeneidade genética em atrofia óptica autossômica dominante

Translated title of the contribution: Genetic heterogeneity in autosomal dominant optic atrophy

Juliana Maria Ferraz Sallum, Michel Eid Farah, Irene Hussels Maumenee

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM interval in chromosome 3q28-29 between markers D3S3669 and D3S3562. One family was mapped to chromosome 18q12.2-12.3. Linkage analysis in three families with autosomal dominant optic atrophy with polymorphic DNA markers for chromosome 3q28-29 and 18q12.2-12.3. Methods: 57 individuals from three families underwent ophthalmological examination. Genomic DNA was extracted from blood samples. Linkage analysis was performed between the disease and 11 polymorphic markers around 3q28-qter and 18q12.2-12.3. Polymerase chain reaction (PCR) fragments sizes were identified in a scanner gel using a 373 DNA sequencer. These numbers were used as alleles for pedigree analysis. The lod scores were calculated using the MLINK program. Results: All three families presented optic atrophy with autosomal dominant pattern of inheritance, variable expression and high penetrance. Two families were linked to 3q28-29 markers. A maximal lod score of 3.56, at a recombination fraction of zero, was obtained using the marker D3S3669 in one family. The linkage area was defined in a 2 cM interval by haplotype analysis between markers D3S2418 and D3S1305, because patients III.4 and III.14 showed crossing-overs. The third family was not linked to 3q28-29 neither to 18q12.2-12.3. Conclusions: There is genetic heterogeneity in autosomal dominant optic atrophy, because the third family did not map to any known locus. And a third locus for this disease may exist.

Translated title of the contributionGenetic heterogeneity in autosomal dominant optic atrophy
Original languagePortuguese
Pages (from-to)419-426
Number of pages8
JournalArquivos brasileiros de oftalmologia
Issue number4
StatePublished - 2002
Externally publishedYes


  • Autosomal dominant optic atrophy/genetics
  • Color vision defects
  • Linkage (Genetics)
  • Visual acuity
  • Visual fields

ASJC Scopus subject areas

  • Ophthalmology


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