Colour vision deficiency.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic search or meta-analysis
PubMed 19927164 · doi:10.1038/eye.2009.251
What was done
This narrative review summarizes the pathophysiology, genetic mechanisms, prevalence, and clinical management of congenital and acquired colour vision deficiencies based on behavioural data, modern molecular genetics, and emerging experimental treatments.
What was found
Congenital colour vision deficiency affects up to 8% of males and 0.5% of females, reflecting an X-linked recessive inheritance pattern for the most common forms. Management currently relies primarily on counseling, including career guidance. The review notes that while visual aids can assist with certain specific tasks, evidence indicates they do not enable individuals to achieve normal colour discrimination. Animal models of gene therapy have demonstrated improvement following treatment.
Why it matters
It provides clinicians with a concise overview of the epidemiology, molecular genetics, and realistic expectations regarding assistive devices and future therapeutic avenues for colour vision deficiency.
Limits
This is a broad narrative review that presents general epidemiology and mechanism-based summaries without reporting a systematic literature search, formal quality assessment of included studies, sample sizes, or quantitative effect estimates for visual aids.
Cited by
- supports Most red-green colorblind individuals are male due to the location of the gene mutation on the X chromosome.