Comparion of the clinical expreion of retiniti pigmentoa aociated with rhodopin mutation at codon 347 and codon 23,

Purpoe To examine the difference in expreion of retiniti pigmentoa from mutation at codon 23 and codon 347 or rhodopin; to report a novel mutation in rhodopin. Method Goldmann perimetry (olid angle of I4e iopter) and electroretinographic amplitude (quare root tranform of a repone ratio) were analyzed for 24 patient with mutation at codon 347 (15 with Pro347Ala, 2 with Pro347Gln, 6 with Pro347Leu, and 1 with a novel Pro347Cy change) and 41 patient with mutation at codon 23 (6 with Pro23Ala; 35 with Pro23Hi). Reult When all patient with mutation at codon 347 and 23 were compared, lo of viual field wa ignificantly wore in patient with codon 347 change (P = .0003). Only rod repone of the electroretinogram were ignificantly different between the two group (P = .048). pecific comparion of Pro347Ala with Pro23Ala uing regreion analyi demontrated ignificant difference in everity between codon 23 and codon 347 patient for b-wave amplitude of rod (P = .0069), cone (P = .039) and maximum combined repone (P = .049). The olid angle of the I4e iopter wa alo ignificantly different (P = .025) between the group after controlling for age. Modeling age by group for Pro347Ala comparion produced an R2 of .44. Concluion We reconfirmed that rhodopin-related retiniti pigmentoa from mutation involving codon 347 produce a more evere phenotype than that involving codon 23. Accurate modeling of dieae wa hown to be poible by incorporating the effect of a patient’ age and pecific genotype. Therefore, both of thee variable mut be conidered in prognotic couneling and ubject recruitment for future therapeutic trial.