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Inherited Retinal Diseases

Inherited retinal diseases affect millions of people worldwide, causing loss of vision in adults and children alike. The many diseases within this group are caused by any of thousands of known genetic mistakes in more than 250 genes. These genetic mistakes, and therefore the diseases they cause, are inherited.

An individual may inherit a genetic mistake from a parent, and pass it down to their own children, completely unaware of this silent problem until a family member, be it adult or child, is diagnosed with a sight stealing disease. The roller coaster begins.

Based on current statistics, the most likely diagnosis would be:

  1. Retinitis Pigmentosa (RP), the leading cause of youth blindness in Australia.
  2. Macular Dystrophy (MD), which affects central vision critical in daily life.
  3. Macular Degeneration (AMD), the age related form of MD, which requires both a genetic predisposition and an environmental cue before disease onset later in adult life.

What causes inherited retinal diseases?

It is thought that about one child in every 1,500 is born with an inherited retinal disease in Australia. It is important to recognise that it is no one's fault and that an inherited retinal disease can strike in a family with no known history of it. In fact, inherited retinal diseases result  from an imperfection in a tiny gene that causes an incorrect protein to be  supplied to the retina. Over time this causes photoreceptor cells to die and  progressive loss of vision results.

Some rarer inherited retinal diseases affect other parts of the body. For example, Usher Syndrome affects hearing as well as sight.

More information is given in the links at the foot of this page. 


Anatomy Of The Eye


The eye is one of the most complex organs in the body. 

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Inheritance Patterns


Retinal diseases can be inherited in different ways.



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Specific Conditions


There are many kinds of retinal diseases.

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