Course: The Young Eye: Embryology, Part 1 - Genetics and first trimester

Section

General

Domains: Clinical practice

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The human eye is one of the most complex organs in the body. Its formation during early development defines its functions and qualities for the rest of our lives.

In this two-part series, we follow the developmental journey of one foetus from conception through to birth. Starting at the very beginning we examine the issues that can arise at each developmental stage and the clinical conditions they result in.

Part one explores the relevance of genetics to clinical optometry in practice. Most ocular diseases or conditions can be traced back to a genetic predisposition or developmental processes during gestation. This includes diseases that develop immediately following birth and also those that develop much later in life. Understanding the underlying mechanisms behind these processes helps us to better understand disease development and ultimately improves the management of patients and their conditions.

We will follow the development of the eye for the first three months of maturation. The first trimester of pregnancy is the most important for congenital development. This is when major systems begin to develop, including the eye, and the embryo is most vulnerable during this period. Any abnormalities arising from genetic mutations or external insult, such as a viral infection, can have consequences for the normal development of the eye.

If you want to find out how the eye develops during the remainder of the pregnancy, and learn about defects that can be caused by a premature or traumatic birth, go to Young Eye: Embryology, Part Two

First published: September 2018
Last reviewed: August 2024

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Learning outcomes

Clinical practice

s.5 Keep your knowledge and skills up to date

Understand the nature of genetic inheritance as applied to ocular disease and so be better able to explain the relevance of and risks for a range of common ocular conditions.
Understand the influences upon the mother and foetus in the first three months of gestation and how they may influence eye development and the presentation of a range of ocular disorders.

Unit 1 - Introduction (~2 mins)

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Unit 2 - Genetics (~22 mins)

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e-LearningUnit 2: Genetics e-Learning
Additional reading
Gegenfurtner K, Sharpe L (2001) Color Vision: From Genes to Perception. Cambridge University Press.
Harvey W, Gilmartin B (2004) Paediatric optometry. Butterworth Heinemann.
Kannabiran (2019) Genetics of Eye Diseases: An Overview. Blackwell.
Tsang S, Sharma T (2018) Atlas of Inherited Retinal Diseases. Springer.
Wright K, Spiegel, P (2003) Pediatric Ophthalmology and Strabismus. Springer.
References
Abdi S, et al. (2016) Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLOS ONE 11(9), p.e0161893
Ben-Yosef T, Friedman T (2003) The genetic bases for syndromic and nonsyndromic deafness among Jews. Trends in Molecular Medicine; 9(11), pp 496-502
Fingert J (2011) Primary open-angle glaucoma genes. Eye; 25(5), pp 587-595
Hornbeak D, Young T (2009) Myopia genetics: a review of current research and emerging trends. Current Opinion in Ophthalmology; 20(5), pp 356-362
Khan M et al. (2015) Characterization and pharmacologic targeting of EZH2, a fetal retinal protein and epigenetic regulator, in human retinoblastoma. Laboratory Investigation; 95(11), pp 1278-1290
Kwon Y et al. (2009) Primary Open-Angle Glaucoma. New England Journal of Medicine; 360(11), pp 1113-1124
Lewis R et al. (1999) Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease. The American Journal of Human Genetics; 64(2), pp 422-434
URLMackey D (2022) What colour are your eyes? Teaching the genetics of eye colour & colour vision. Edridge Green Lecture RCOphth Annual Congress Glasgow May 2019. Eye (London, England); 36(4), pp 704–715 [Accessed Aug 2024] URL Opens in a new window.
URLMarković L, Bukovac A, Varošanec A et al. (2023) Genetics in ophthalmology: molecular blueprints of retinoblastoma. Human genomics; 17(1), p 82 [Accessed Aug 2024] URL Opens in a new window.
Tedja M, Haarman, A, Meester-Smoor M et al. (2019) IMI - Myopia Genetics Report. Investigative ophthalmology & visual science; 60(3), pp M89–M105
Youngblood H, Hauser M and Liu Y (2019) Update on the genetics of primary open-angle glaucoma. Experimental eye research; 188, p 107795

Unit 3 - The first trimester (~20 mins)

Please note: You will need to allow 'pop ups' on your browser in order to view this content.

You can work through each section of this course at your own pace and return to any section as many times as you like.

You may find it easier to view this course on a desktop computer or a tablet due to the detailed content. See our FAQ on how to screencast from a phone to a larger screen.

Click below to launch the course.

e-LearningUnit 3: The First Trimester e-Learning
Additional reading
Wright K, Spiegel, P (2003) Pediatric Ophthalmology and Strabismus. Springer.
References
Gregory-Evans C (2004) Ocular coloboma: A reassessment in the age of molecular neuroscience. Journal of Medical Genetics; 41(12), pp 881-891
Mets M, Chhabra M (2008) Eye manifestations of intrauterine infections and their impact on childhood blindness. Survey of Ophthalmology; 53(2), pp 95-111
Paquette L et al. (2009) In utero eye development documented by fetal MR imaging. American Journal of Neuroradiology; 30(9), pp 1787-1791
Ventura C et al. (2016) Zika: Neurological and ocular findings in infant without microcephaly. The Lancet; 387(10037), p 2502

More information

Docet would like to thank the following for their contribution to this programme:
SME advisors:
Dr Patrick Calvas, Department of Medical Genetics, Toulouse University Hospital Centre
Dr Nicolas Chassaing, Department of Medical Genetics, Toulouse University Hospital Centre
Dr Sophie Creuzet, Alfred Fessard Institute of Neurobiology
Whitney Heavner, Interdisciplinary Scholar, Stanford Neurosciences Institute
Saurabh Jain FRCOphth, Consultant Ophthalmologist and Clinical Director Royal Free London NHS Foundation Trust
Ian Simmons, Consultant Paediatric Ophthalmologist and Ophthalmic Surgeon, Leeds Teaching Hospital NHS Trust.

Voiceover by Katie Reddin-Clancy.

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