plice ite mutation in the peripherin/RD gene aociated with pattern dytrophy of the retina

PURPOE : To report the phenotype and genotype of a plice ite mutation at intron 2 of the peripherin/RD gene in four half-ibling with pattern dytrophy of the retina. DEIGN : Experimental tudy. METHOD : In four ibling with a common mother and three eparate father, complete ophthalmic examination, pedigree, electrophyiologic teting, and fluorecein angiography tudie were obtained. Genomic DNA from erum lymphocyte wa iolated and ued a a template for primer pecific for the cone homeobox gene (CRX), rhodopin (RHO), and peripherin/RD gene to conduct ingle tranded conformational analyi and cycle equencing. REULT : The pedigree of four affected ibling uggeted probable autoomal dominance tranmiion of pattern dytrophy. In the four ibling, bet corrected viual acuity ranged from 20/20 to 20/80 by nellen chart. Clinical finding included dicrete, localized degenerative change of the macular retinal pigment epithelium in all patient, with ubclaification foveal. One patient exhibited pigment clumping within the atrophic area. Another patient exhibited yellow fleck diffuely in the macula. Fluorecein angiographic finding included central hypofluorecence with a urrounding rim of hyperfluorecence that correponded to the oberved fundu leion and window defect. There wa a range of electroretinography (ERG) and electrooculography (EOG) finding. One patient demontrated both cone and rod dyfunction on ERG teting and another demontrated decreaed rod function. EOG teting wa normal in two patient and mildly diminihed in one patient. DNA equencing identified a point mutation in intron 2 of the peripherin/RD gene, coniting of an A to T change at 1068+3, preent in all four affected patient. CONCLUION : Four ibling with pattern dytrophy of the retina preented a plice ite mutation in the peripherin/RD gene.