title: Golden tapetal reflex in male patients with X-linked retinitis pigmentosa. Case report and practical implications.
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.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: L
authors.initials: L
authors.lastname: van Osch
authors.forename: M
authors.initials: M
authors.lastname: van Schooneveld
authors.forename: E M
authors.initials: EM
authors.lastname: Bleekerwagemakers
mesh_terms: D002648:Child; D005654:Fundus Oculi; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012737:Sex Factors; D014792:Visual Acuity; D014960:X Chromosome