A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.

Journal Article (Journal Article)

Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.