Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

Arch Ophthalmol. 1993 Nov;111(11):1525-30. doi: 10.1001/archopht.1993.01090110091031.


Objective: Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 (MTATP*NARP8993) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disorders.

Design: Pedigree analysis.

Setting: University referral center.

Patients: Eight subjects from two unrelated pedigrees that were positive for the mitochondrial DNA replacement mutation at nucleotide position 8993 were evaluated ophthalmologically and neurologically.

Results: Retinal abnormalities ranged from mild salt-and-pepper changes to severe retinitis pigmentosa-like changes with maculopathy. Neurologic manifestations were also highly variable and ranged from migraine headaches to severe dementia and Leigh's disease.

Conclusions: The type and extent of retinal pigmentary changes and neurologic findings varied substantially, even among members of the same family. These changes, although not specific for the MTATP*NARP8993 mutation, are highly suggestive of mitochondrial disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Electroretinography
  • Female
  • Fundus Oculi
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / pathology
  • Pedigree
  • Point Mutation*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Visual Acuity
  • Visual Fields


  • DNA, Mitochondrial