she was nearly twenty with dark hair and darker eyes

Geneticist Victor McKusick stated, “The early view that blue is a simple recessive has been repeatedly shown to be wrong by observation of brown-eyed offspring of two blue-eyed parents”. There are intermediate variations of green and hazel, as well as albino eyes, which lack pigment entirely-all examples for which the simple Mendelian model does not apply. In the near future, patients will attend eye clinics with genetic results showing they are at high risk of certain eye diseases and ophthalmologists will need to know how to screen, follow and treat these patients.īlue or brown describes only a portion of eye colour.

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”.

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.

She was nearly twenty with dark hair and darker eyes