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Article

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.

Vision research - 1 Dec 2006

Iannaccone Alessandro, Man David, Waseem Naushin, Jennings Barbara J, Ganapathiraju Madhavi, Gallaher Kevin, Reese Elisheva, Bhattacharya Shomi S, Klein-Seetharaman Judith

Abstract excerpt

Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R...

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PMID: 17014888
DOI: 10.1016/j.visres.2006.08.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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