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C.J. MacKay, P. Gouras, M. Hayashi, J. Zernant, R. Allikmets; Enhanced S–cone syndrome in a pedigree including autosomal dominant Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3720.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:To understand the genetic defect(s) that cause four members of one family to exhibit an advanced, progressive retinitis pigmentosa (RP) over three generations while a fifth member exhibits the enhanced S–cone syndrome (ESCS) phenotype, which has remained stationary for the past twenty years. Methods:Standard tests of retinal function were combined with screening of candidate genes responsible for autosomal dominant RP and ESCS by direct sequencing. Results:Two sisters in this family were confirmed to be compound heterozygotes for the same two mutations in NR2E3, but presented with substantially different phenotypes; one sister has advanced RP and the other stationary ESCS. The latter has three children, including one son affected with advanced RP. Both children, a son and daughter, of this son are affected with RP. These three members affected with RP are heterozygous carriers of only one NR2E3 mutation. Screening of several genes involved in autosomal dominant RP, e.g. NRL, CRX, RDS, RHO in this family has not revealed any disease associated alleles.The most advanced RP patient, the sister, has a clumped pigment pattern in her retina. The less advanced cases have relatively little pigment. The sister with stationary ESCS has developed a small patch of intra–retinal pigment peripherally in the face of an unchanged ERG, visual field and acuity over 20 years. Conclusions:NR2E3 alleles may play a role in modifying the effects of a gene responsible for autosomal dominant RP
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