Revista Cubana de Oftalmología
On-line version ISSN 1561-3070
DYCE GORDON, Elisa; MAPOLON ASCENDOR, Yolanda and DYCE GORDON, Beatriz. Clinical manifestations of recessive retinitis pigmentosa linked to sex in a carrier . Rev Cubana Oftalmol [online]. 2001, vol.14, n.1, pp. 0-0. ISSN 1561-3070.
The case of a carrier of the mutant gene causing retinitis pigmentosa with recessive heredity linked to sex with a typical clinical picture of late onset disease and marked assimetry of ophthalmological manifestations between both eyes is presented. Lyon's hypothesis is used to explain the occurrence of this event. It is concluded that heterozygote females may have the same clinical manifestations as hemizigote males. That's why, an ophthalmologic thorough study should be conducted to confirm the state of the carrier as well as to initiate an adequate treatment, if necessary.
Keywords : RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA; HETEROZYGOTE; X CHROMOSOME; SEX CHROMOSOME ABNORMALITIES; EYE MANIFESTATIONS.