Abstract
Several different rhodopsin gene mutations have been identified in the last years in pedigrees with autosomal dominant retinitis pigmentosa (adRP). In view of the differences in the molecular nature and location of these mutations, defining the phenotype has become increasingly important in order to identify the clinical counterpart to the different functional abnormalities of the photopigment molecule.1–9
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Del Porto, G. et al. (1993). Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene. 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_9
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