Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy

Arch Ophthalmol. 1979 Jul;97(7):1292-6. doi: 10.1001/archopht.1979.01020020034007.

Abstract

A new, slowly progressive, autosomal dominant macular dystrophy was found in five patients from three generations of a family, with follow-up for long as 27 years. The mild functional abnormalities of this dystrophy were roughly correlated with age; in the sixth decade of life, paracentral scotomatous areas were noted. The earliest ophthalmoscopic findings were present in a 4-year-old and consisted of a yellowish refractile sheen with red fenestrations within the sensory retina of the macula. By the third decade, an annular zone of hypopigmentation of the retinal pigment epithelium (RPE) appeared around the area of the sheen and progressively enlarged. Surrounding the annular zone of hypopigmentation and at its center was slightly hyperpigmented RPE (bull's-eye lesion). Fluorescein angiography showed no abnormalities in the sensory retina and intact perfusion of choriocapillaris.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Choroid
  • Chromosome Aberrations
  • Chromosome Disorders
  • Diagnosis, Differential
  • Female
  • Fluorescein Angiography
  • Genes, Dominant
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Pigment Epithelium of Eye
  • Retinal Degeneration / diagnosis
  • Uveal Diseases / diagnosis