Article
Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.
American journal of ophthalmology - 1 Aug 2003
Oh Kean T, Longmuir Reid, Oh Dawn M, Stone Edwin M, Kopp Kelly, Brown Jeremiah, Fishman Gerald A, Sonkin Peter, Gehrs Karen M, Weleber Richard G
Abstract excerpt
PURPOSE: To examine the difference in expression of retinitis pigmentosa from mutations at codon 23 and codon 347 or rhodopsin; to report a novel mutation in rhodopsin. METHODS: Goldmann perimetry (solid angle of I4e isopter) and electroretinographic amplitudes (square root transform of a response ratio) were analyzed for 24 patients with mutations at codon 347 (15 with Pro347Ala, 2 with Pro347Gln, 6 with...
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