AI Article Synopsis
- A mother and daughter were identified with autosomal dominant retinitis pigmentosa (adRP) due to a specific mutation in the rhodopsin gene, changing threonine to lysine at codon 4.
- Both patients exhibited similar eye symptoms, including a distinct pattern in the back of the eye and specific pigment changes in the lower retina, leading to visual field challenges.
- The type of retinal response measured also indicated a cone-rod pattern of retinitis pigmentosa, linking their clinical traits to the identified genetic mutation.
Article Abstract
A mother and daughter with autosomal dominant retinitis pigmentosa (adRP) were found to carry a cytosine-to-adenine transversion mutation at codon 4 of the rhodopsin gene. This mutation predicts a substitution of lysine for threonine at one of the glycosylation sites in the rhodopsin molecule (Thr4Lys). Both patients presented with a similar phenotype including a tigroid pattern of the posterior pole and a regional predilection for degenerative pigmentary changes in the inferior retina with corresponding visual field defects. The electroretinographic pattern was suggestive of RP of the cone-rod type. This report documents the clinical findings associated with this defined mutation of the rhodopsin gene.
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| http://dx.doi.org/10.3109/13816819409098864 | DOI Listing |
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