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Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
Journal article   Open access   Peer reviewed

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation

Kean T Oh, Richard G Weleber, Andrew Lotery, Dawn M Oh, Andrea M Billingslea and Edwin M Stone
Archives of ophthalmology (1960), Vol.118(9), pp.1269-1276
09/2000
DOI: 10.1001/archopht.118.9.1269
PMID: 10980774
url
https://doi.org/10.1001/archopht.118.9.1269View
Published (Version of record) Open Access

Abstract

To report the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at codon 23 (Pro23His). We examined 6 patients within a single pedigree. The electroretinograms (ERGs) of 35 patients with known Pro23His mutations and of 22 healthy individuals were reviewed. Scotopic dim flash-response amplitudes, maximum combined-response amplitudes, and photopic-response amplitudes from the ERGs of these patients were plotted against age. The ERG indices of 5 individuals in the Pro23Ala family were compared with those of the patients with Pro23His mutations and of healthy individuals. Multiple linear regression was performed to evaluate the effect of age and mutation type on amplitudes. Mutation detection was performed using single-strand conformation polymorphism analysis, followed by automated DNA sequencing. Patients with the Pro23Ala mutation have a clinical phenotype characterized by onset of symptoms in the second to fourth decades of life, loss of superior visual field with relatively well-preserved inferior fields, and mild nyctalopia. Comparison with patients with the Pro23His mutation demonstrates statistically significant differences (P<.001) in responses to dim flash, maximum combined, and photopic responses between patients with these mutations after controlling for the effects of age. Patients with Pro23Ala mutations were less affected by ERG criteria than patients with Pro23His mutations. Patients with Pro23Ala mutations also differed significantly from healthy patients in all ERG indices examined (P<.001), after controlling for age. We describe a rare mutation in codon 23 of rhodopsin causing autosomal dominant retinitis pigmentosa. The retinal dystrophy associated with the Pro23Ala mutation is characteristically mild in presentation and course, with greater preservation of ERG amplitudes than the more prevalent Pro23His mutation. Arch Ophthalmol. 2000;118:1269-1276
 Phenotype Humans Middle Aged Male Polymorphism, Single-Stranded Conformational Codon DNA Mutational Analysis Visual Fields Adult Female Child Retinitis Pigmentosa - physiopathology Electroretinography Retina - physiopathology Retinitis Pigmentosa - genetics Visual Acuity Point Mutation Rhodopsin - genetics Pedigree Adolescent Aged Visual Field Tests Photic Stimulation Retina - pathology Retinitis Pigmentosa - pathology

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