In a recent publication, Dryja and colleagues1 reported a point mutation of the rhodopsin gene in one form of retinitis pigmentosa (RP). The mutation, a cytosine-to-adenine base transversion, results in the substitution of histidine (His) for proline (Pro) at position 23 of the rhodopsin protein. In heterozygotes for this mutation with one normal and one abnormal copy of the rhodopsin gene, this alteration appears to cause rod cell dysfunction, a characteristic finding in RP.
To see rhodopsin in the forefront of research gives me a feeling of déjà vu. It reminds me of what George Wald,2 who shared the Nobel Prize for his work on rhodopsin, said in 1972: "I feel a little like that character in Molière's play who learned with delight that all his life he had been speaking prose. In the visual pigments we are working with membrane proteins, and membranes and their structure are,
Wong F. Visual Pigments, Blue Cone Monochromasy, and Retinitis Pigmentosa. Arch Ophthalmol. 1990;108(7):935–936. doi:10.1001/archopht.1990.01070090037033
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