Retinal disorders

Retinal disorders

Microscopy image
Retinal disorders are a variety of diseases that cause visual impairment and sometimes blindness. Many retinal disorders are age-related and it is estimated that more than 550,000 Australians aged 55 or older are living with impaired vision.

Retinal disorder research at WEHI

Our researchers are working to better understand the complexity of retinal disorders in order to prevent disease development, predict the outcome of the disease and find better treatments or cures. This research is being led by WEHI bioinformaticians who connect with international basic and clinical researchers.

Our bioinformaticians are:

  • Using systems biology approaches to analyse and combine large datasets to better understand the different subtypes of retinal disorders.
  • Working with international expert teams including medical doctors and scientists, The Centre for Eye Research Australia (CERA) and the MacTel Consortium, to translate our research more rapidly into better health outcomes.

What are retinal disorders?

Microscopic image
The developing retina has a network of blood vessels
that nourish the light-detecting cells.

The retina is a small layer of light sensitive tissue on the inside of the eye. It is responsible for capturing visual information and sending this information through the optic nerve to the brain. Defects or disorders in the retina interfere with this information flow and cause visual symptoms or even blindness in severe cases.

Some retinal disorders such as retinitis pigmentosa or macular degeneration are caused by the age-related loss of the light sensitive cells (rods and cones).

Other forms of retinal disorders are caused by an accumulation of too much liquid behind the eyeball resulting in floaters and in later stages the separation of the retina from the eye (retinal detachment). In some cases, the accumulation of fluid is caused by leaky blood vessels (macular telangiectasia type 2).

Our retinal disorder research focusses on:

Age-related macular degeneration (AMD)

AMD is the leading cause of age-related irreversible blindness in Australia, affecting around 13 per cent of people aged 75 years and older.

In elderly people with AMD the retina that contains the light sensitive cells starts to degenerate. This process starts in the centre of the retina and causes visual defects such as a blurry vision and the inability to focus on small details. If the disease progresses blind spots may develop in the centre of the visual field. AMD can occur as a dry or wet sub-type of macular degeneration. In many cases patients suffer from the dry form of AMD first which then progresses to the wet form. Some patients, but not all, also develop Reticular Pseudodrusen (RPD) which is characterised by yellowish subretinal lesions, and appears to link with poorer vision loss outcomes. To date little is known about the molecular disease mechanism of RPD and no specific treatment is available. Our bioinformaticians are working on understanding the genetic alterations that are linked to the development of RPD in AMD patients, to provide a better classification of AMD subtypes and ultimately provide adjusted treatment options for the different sub-types of AMD.

Macular telangiectasia type 2 (MacTel type 2)

MacTel type 2 is a rare disease that is not age-related but occurs most often in middle-aged adults. It is caused by the degeneration and death of the eye photoreceptors and the malformation of small blood vessels in the eye that then become leaky.

It is not known what causes MacTel type 2, however our researchers have now identified that one major cause is the inability of the patient’s metabolism to produce the amino acid serine. Serine is an important cellular component needed for a healthy retina development.

WEHI's bioinformatics researchers have been searching for new clues about the genetic causes of retinal disorders including MacTel2


What are the symptoms of retinal disorders?

Many retinal disorders share some common symptoms such as:

  • Seeing floating specks or 'cobwebs'
  • Blurry vision
  • Defects in the side vision
  • Spots of decreased or absent vision in the visual field
  • Vision loss

Risk factors for developing retinal disorders

  • Family history of retinal disorders
  • Age
  • Smoking
  • Obesity
  • Eye trauma
  • Other diseases such as diabetes melitis

How are retinal disorders treated?

Treatment options are available for some retinal disorders. This may include non-invasive treatments with supplements or injections, surgery and laser therapy. Most available treatments aim to stop or slow the disease however no cure is available for most retinal disorders.

More information

Information and support for people with vision-related disorders can be found at Vision Australia.


Professor Melanie Bahlo

Photo of Professor Melanie Bahlo
Laboratory Head; Leader, Healthy Development and Ageing Theme