Golden tapetal reflex in male patients with X-linked retinitis pigmentosa. Case report and practical implications

Ophthalmic Paediatr Genet. 1990 Dec;11(4):287-91. doi: 10.3109/13816819009015715.

Abstract

The golden tapetal reflex in the ocular fundus is considered pathognomonic of the carrier state in some families with X-linked retinitis pigmentosa (XRP). Reports concerning affected males with this characteristic reflex are scarce. A six-year-old boy with XRP having a tapetal reflex is described. Recently the tapetal reflex has drawn attention in linkage studies. XRP is probably genetically heterogeneous and has at least two genetic forms. The finding of a tapetal reflex in one or more female carriers in a family with XRP may be helpful in differentiating between these two genetic forms.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Fundus Oculi
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Sex Chromosome Aberrations / genetics
  • Sex Factors
  • Visual Acuity
  • X Chromosome*