North Carolina macular dystrophy: clinicopathologic correlation

Trans Am Ophthalmol Soc. 2001:99:233-7; discussion 237-8.

Abstract

Purpose: To describe the clinical and histopathologic findings in a 72-year-old woman with North Carolina macular dystrophy.

Methods: Clinical examination was performed by slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, and focal electroretinography. Histopathologic examination of the enucleated left eye consisted of light microscopy.

Results: Light microscopy demonstrated a discrete macular lesion characterized by focal absence of photoreceptor cells and retinal pigment epithelium. Bruch's membrane was attenuated in the center of the lesion and associated with marked atrophy of the choriocapillaris. Adjacent to the central lesion, some lipofuscin was identified in the retinal pigment epithelium.

Conclusions: North Carolina macular dystrophy has both clinical and microscopic appearances of a well-demarcated retinal and pigment epithelial lesion confined to the macula. This is consistent with the clinical impression that it is a focal macular dystrophy.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Bruch Membrane / pathology
  • Electroretinography
  • Female
  • Humans
  • Macular Degeneration / genetics
  • Macular Degeneration / pathology*
  • North Carolina
  • Pedigree
  • Photoreceptor Cells, Vertebrate / pathology
  • Retinal Ganglion Cells / pathology