Abstract
We compared the ocular findings in 13 patients from 4 families with autosomal dominant retinitis pigmentosa and 4 different mutations in the carboxyl-terminal sequence of rhodopsin. Phenotypic similarities were found among patients with point mutations predicting the amino acid changes valine-345-methionine, proline-347-serine or proline-347-leucine in the rhodopin molecule. These patients had no measurable rod function and an early impairment of cone function, which was most profound in the proline-347-serine genotype. One patient with a valine-345-methionine mutation showed a regional predilection of fundus abnormalities and cone sensitivity loss. A different phenotype with relatively mild disease expression could be observed in a family with a deletion of 8 base pairs (codons 341–343). One 34 year-old member showed regionally varying rod sensitivity loss, which was less severe in the peripheral visual field, and well maintained cone function, as measured by electroretinography and psychophysical tests.
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Apfelstedt-Sylla, E., Bunge, S., David, D., Rüther, K., Gal, A., Zrenner, E. (1993). Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_11
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DOI: https://doi.org/10.1007/978-1-4615-2974-3_11
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