This Mendelian-Complex genetic explanation for eye colour also crosses over into the genetics of many other eye diseases such as age-related macular degeneration and glaucoma. This may have inspired his own interest in genetics, as he and his identical twin brother had brown eyes and their parents had blue! We now know that eye colour is actually a complex genetic trait, involving interaction of some major genes and many minor genes. 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 color: Unique as a fingerprint.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. Are costume contact lenses safe?Īmerican Academy of Ophthalmology. Why are my eyes changing color?Īmerican Academy of Ophthalmology: EyeSmart. What is ocular melanoma?Īmerican Academy of Ophthalmology: EyeSmart. doi:10.1002/dmrr.1214Īmerican Academy of Ophthalmology. Diabetes/Metabolism Research and Reviews. Blue eyes as a risk factor for type 1 diabetes. Individuals with dark eyes and hair exhibit higher pain sensitivity. Holmgaard H, Hansen EØ, Dong NP, Dixen LB, Nielsen GA, Poulsen JN, Gazerani P. University of Pittsburgh Medical Center: Inside Life Changing Medicine. National Organization for Albinism and Hypopigmentation: NOAH. Piebaldism.Īmerican Academy of Ophthalmology: EyeSmart. National Library of Medicine: MedlinePlus. Is eye color determined by genetics?Īmerican Academy of Ophthalmology: EyeSmart. Forensic Science International: Genetics. True colors: A literature review on the spatial distribution of eye and hair pigmentation. Iris colour classification scales-then and now.
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