Genetics in ophthalmology and its relevance to optometry

1 August 2007
Volume 08, Issue 3

Francis Carbonaro tackles the role of genetics in eye disease with a basic review of genetic principles and their relevance to optometry.

Introduction

Medicine as a whole is undergoing a major transformation and with it, so is ophthalmology. Many diseases are now being tackled from a new angle – genetics. In ophthalmology, the role of heredity has been studied for around 100 years, looking mainly at disorders inherited in a straightforward mendelian fashion. The basic mendelian inheritance, named after Gregor Mendel, the monk who first described the process in 1866, has two basic principles: the principle of segregation and the principle of random assortment. These state that the alleles segregate at the time of formation of the gametes (sperms and ova) and then reunite randomly at fertilisation. An allele is any of a number of alternative forms of a gene. Mendelian or monogenically inherited disorders are easier to study and to predict because, as the name implies, their inheritance is determined by one gene. Examples of mendelian diseases include retinitis pigmentosa (RP) and familial congenital cataract syndromes. However, many disorders are inherited as complex traits, which means that there is a likely combination of multiple genes and environmental factors building up to the clinical picture (the phenotype) and so they do not run directly in the family. Examples include myopia and age–related macular degeneration (ARMD). 

Sign in to continue

Forgotten password?
Register

Sign in to view the article

Not a member? Start enjoying the benefits of College membership today. Take a look at what the College can offer you and view our membership categories and rates.

Related further reading

ADVERTISEMENT: Kate Stockwell, Head of Marketing – Vision Care at Johnson & Johnson explains the company’s commitment to creating a world where vision is made possible for everyone.

In each issue, Acuity poses a topical question on a tricky scenario to a panel of members.

Optometrists can play a crucial role in highlighting the red flags of intraoperative floppy iris syndrome before cataract surgery, says Rima Evans.