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 approximately 200 genes. These genetic mistakes 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 is diagnosed with a sight stealing disease. Based on current statistics the most likely diagnosis would be Retinitis Pigmentosa (RP), the leading cause of youth blindness in Australia; Macular Dystrophy (MD), which affects central vision critical in daily life or 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.

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 leads to 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.