We need to ask every patient about their family history. Genetics should be part of the armamentarium of every practicing ophthalmologist. Genetics is relevant, not just for Inherited Retinal Diseases and congenital abnormalities but also for the leading causes of blindness: age-related macular degeneration, glaucoma, myopia, diabetic retinopathy and cataract. As the explosion of data from genomics, big data and artificial intelligence transforms medicine, ophthalmologists need to be genetically literate. These themes in popular culture can be leveraged as tools to teach and engage everyone in genetics, which is now a key component in all eye diseases. Television shows such as Game of Thrones focused attention on the eye colour of characters, as well as their Dire-wolves and Dragons. Beyond genetics, colour perception touches on concepts involving optics, physics, physiology and psychology and can capture the imagination of the population, as we saw with social media trend of “#the dress”. Myth or Fact: Blue Eyes Are More Sensitive to Light.Eye colour and colour perception are excellent examples to use when teaching genetics as they encompass not simply the basic Mendelian genetics of dominant, recessive and X-linked disorders, but also many of the new concepts such as non-allelic diseases, polygenic disease, phenocopies, genome-wide association study (GWAS), founder effects, gene-environment interaction, evolutionary drivers for variations, copy number variation, insertions deletions, methylation and gene inactivation. Eye Color: Unique as a Fingerprint.ĭuke University Health System. Genetics Home Reference.Īmerican Academy of Opthamology. Mutation in the PAX6 gene in twenty patients with aniridia. GPR143 mutations in Chinese patients with ocular albinism type 1. Jia X, Yuan J, Jia X, Ling S, Li S, Guo X. National Library of Medicine: Genetics Home Reference. Eldridge green lecture RCOphth Annual Congress Glasgow May 2019. What colour are your eyes? Teaching the genetics of eye colour and colour vision. Is eye color determined by genetics?.Įdwards AW. A global view of the OCA2-HERC2 region and pigmentation. Gene-gene interactions contribute to eye colour variation in humans. Pośpiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. What colour are newborns’ eyes? Prevalence of iris colour in the Newborn Eye Screening Test (NEST) study. Ludwig CA, Callaway NF, Fredrick DR, Blumenkranz MS, Moshfeghi DM. Albinism: particular attention to the ocular motor system. Iris color classification scales - then and now. Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour. Iris color and associated pathological ocular complications: A review of epidemiologic studies. Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
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